CYP2C19 allele nomenclature

Allele

Protein

Nucleotide changes

Trivial name

Effect

Enzyme activity

References

cDNA

Gene*

*To be considered CYP2C19*1A, the genomic reference sequence must be changed to -1041G, 99C and 80161A.

In_vivo

In_vitro

CYP2C19*1A

CYP2C19.1A

None

None

  

None

Normal

Normal

Romkes et al, 1991

CYP2C19*1B

CYP2C19.1B

99C>T; 991A>G

99C>T; 80161A>G

 

I331V

Normal

 

Richardson et al, 1997

CYP2C19*1C

CYP2C19.1B

991A>G

80161A>G

 

I331V

Normal

    

Blaisdell et al, 2002

CYP2C19*2A

 

99C>T; 681G>A; 990C>T; 991A>G

99C>T; 19154G>A; 80160C>T; 80161A>G

m1; m1A

Splicing defectI331V

None

 

de Morais et al, 1994a

CYP2C19*2B

 

99C>T; 276G>C; 681G>A; 990C>T; 991A>G

99C>T; 12460G>C; 19154G>A; 80160C>T; 80161A>G

m1B

E92D; splicing defect; I331V

None

 

Ibeanu et al, 1998b

CYP2C19*2C
(also called CYP2C19*21)

 

99C>T481G>C; 681G>A; 990C>T; 991A>G

-98T>C99C>T; 12122G>A; 12662A>G; 12834G>C; 19154G>A; 19520A>G57740C>G; 79936T>A80160C>T; 80161A>G 

 

A161P, splicing defect, I331V

 

 

Fukushima-Uesaka et al., 2005

CYP2C19*2D

 

99C>T; 681G>A; 990C>T; 991A>G; 1213G>A

-98T>C; 99C>T; 12662A>G; 19154G>A; 57740C>G; 80160C>T; 80161A>G; 87275G>A

 

Splicing defect; E405K

 

 

Lee et al., 2009

CYP2C19*2E

 

99C>T; 681G>A; 813G>A; 990C>T; 991A>G;

99C>T; 19154G>A; 19286G>A; 80160C>T; 80161A>G

 

Splicing defect; M271I; I331V

 

 

Hu et al., 2012

CYP2C19*2F

 

99C>T; 681G>A; 990C>T; 991A>G; 1021G>A

99C>T; 19154G>A; 80160C>T; 80161A>G; 80191G>A

 

Splicing defectI331V; D341N

 

 

Hu et al., 2012

CYP2C19*2G

 

99C>T; 681G>A; 990C>T; 991A>G; 1079A>T

99C>T; 19154G>A; 80160C>T; 80161A>G; 80249A>T

 

Splicing defectI331V; D360V

 

 

Hu et al., 2012

CYP2C19*2H

 

99C>T; 681G>A; 990C>T; 991A>G; 1186C>G

99C>T; 19154G>A; 80160C>T; 80161A>G; 87248C>G

 

 

Splicing defect; I331V; H396D

 

 

Hu et al., 2012

CYP2C19*2J

 

99C>T; 681G>A; 990C>T; 991A>G; 1261A>C

99C>T; 19154G>A; 80160C>T; 80161A>G; 87323A>C

 

 

Splicing defect; I331V; K421Q

 

 

Hu et al., 2012

CYP2C19*3A

 

636G>A; 991A>G; 1251A>C

17948G>A; 80161A>G; 87313A>C

m2

W212X; I331V

None

 

de Morais et al, 1994b

CYP2C19*3B
(also called CYP2C19*20)

 

636G>A; 991A>G; 1078G>A; 1251A>C

-889T>G; 12013T>G; 12122G>A; 12306G>A; 13166T>C; 17948G>A; 18911A>G; 80161A>G 80248G>A; 87313A>C

 

W212X; D360N; I331V

None

 

Fukushima-Uesaka et al., 2005

CYP2C19*3C

 

407T>A; 636G>A; 991A>G; 1251A>C

12760T>A; 17948G>A; 80161A>G; 87313A>C

 

M136K, W212X; I331V

 

 

Hu et al., 2012

CYP2C19*4A

 

1A>G; 99C>T, 991A>G

1A>G; 99C>T; 80161A>G

m3

GTG initiation codon; I331V

None

 

Ferguson et al, 1998

CYP2C19*4B

 

1A>G; 99C>T, 991A>G

-3402C>T; -806C>T; 1A>G; 99C>T; 80161A>G

 

GTG initiation codon; I331V

None

 

Scott et al., 2011
Zackrisson et al., 2010

CYP2C19*5A

CYP2C19.5A

1297C>T

90033C>T

m4

R433W

None

None

Xiao et al, 1997
Ibeanu et al, 1998a

CYP2C19*5B

CYP2C19.5B

99C>T; 991A>G; 1297C>T

99C>T; 80161A>G; 90033C>T

   

I331V; R433W

None

 

Ibeanu et al, 1998a

CYP2C19*6

CYP2C19.6

99C>T; 395G>A; 991A>G

99C>T; 12748G>A; 80161A>G

m5

R132Q; I331V

None

None

Ibeanu et al, 1998b

CYP2C19*7

 

 

19294T>A

  

Splicing defect

None

 

Ibeanu et al, 1999

CYP2C19*8

CYP2C19.8

358T>C

12711T>C

 

W120R

None

Decr

Ibeanu et al, 1999

CYP2C19*9

CYP2C19.9

99C>T; 431G>A; 991A>G

99C>T; 12784G>A; 80161A>G

 

R144H; I331V

  

(Decr)

Blaisdell et al, 2002

CYP2C19*10

CYP2C19.10

99C>T; 680C>T; 991A>G

99C>T19153C>T; 80161A>G

   

P227L; I331V

 

Decr

Blaisdell et al, 2002

CYP2C19*11

CYP2C19.11

99C>T; 449G>A; 991A>G

99C>T; 12802G>A; 80161A>G

aR150H can also exist in linkage with CYP2C19*'2’s
12662A>G.

   

R150H; I331V

 

  

Blaisdell et al, 2002
aSkierka

and Black, 2014

 

CYP2C19*12

CYP2C19.12

99C>T; 991A>G; 1473A>C

99C>T; 80161A>G; 90209A>C

 

I331V; X491C; 26 extra aa

 

Unstable

Blaisdell et al, 2002

CYP2C19*13

CYP2C19.13

991A>G; 1228C>T

80161A>G; 87290C>T

   

I331V; R410C

 

  

Blaisdell et al, 2002

CYP2C19*14

CYP2C19.14

50T>C; 99C>T; 991A>G

50T>C; 99C>T; 80161A>G

  

L17P; I331V

 

 

Blaisdell et al, 2002

CYP2C19*15

CYP2C19.15

55A>C; 991A>G

55A>C; 80161A>G

  

I19L; I331V

 

 

Blaisdell et al, 2002

CYP2C19*16

CYP2C19.16

1324C>T

90060C>T

Existence of the CYP2C19*2 polymorphism 681G>A on the same allele can not be excluded

 

R442C

   

   

Morita et al, 2004

CYP2C19*17

CYP2C19.1B

99C>T; 991A>G

-3402C>T; -806C>T; 99C>T; 80161A>G

 

I331V

Incr.

Incr. transcr.

Sim et al., 2006
Rudberg et al., 2007
Sibbing et al., 2010

CYP2C19*18

CYP2C19.18

99C>T; 986G>A; 991A>G

99C>T; 80156G>A; 80161A>G; 87106T>C

 

R329H; I331V

 

 

Fukushima-Uesaka et al., 2005

CYP2C19*19

CYP2C19.19

99C>T; 151A>G; 991A>G

99C>T; 151A>G; 80161A>G; 87106T>C

 

S51G; I331V

  

 

Fukushima-Uesaka et al., 2005

CYP2C19*20

See CYP2C19*3B

CYP2C19*21

See CYP2C19*2C

CYP2C19*22

CYP2C19.22

557G>C; 991A>G

17869G>C; 80161A>G

 

R186P; I331V

 

 

Matimba et al., 2009

CYP2C19*23

CYP2C19.23

99C>T; 271G>C; 991A>G

99C>T; 12455G>C; 80161A>G

 

G91R; I331V

 

 

Zhou et al., 2009

CYP2C19*24

CYP2C19.24

99C>T; 991A>G; 1004G>A; 1197A>G

99C>T; 80161A>G; 80174G>A; 87259A>G

 

I331V; R335Q

 

 

Zhou et al., 2009

CYP2C19*25

CYP2C19.25

99C>T; 991A>G; 1344C>G

99C>T; 80161A>G; 90080C>G

 

I331V; F448L

 

 

Zhou et al., 2009

CYP2C19*26

CYP2C19.26

99C>T; 766G>A; 991A>G

99C>T; 19239G>A; 80161A>G

 

D256N; I331V

 

 

Lee et al., 2009

CYP2C19*27

CYP2C19.1B

991A>G

-1041G>A; 80161A>G

 

I331V

 

Decr. expr.

Drögemöller et al., 2010

CYP2C19*28
(Preliminary)

CYP2C19.28

55A>C; 991A>G; 1120G>A

-2030C>T; -2020C>A; -1439T>C; 55A>C; 80161A>G; 80290G>A

 

I19L; I331V; V374I

 

 

Drögemöller et al., 2010

CYP2C19*29

CYP2C19.29

83A>T99C>T; 991A>G

83A>T; 99C>T; 80161A>G

 

K28I; I331V

 

 

Hu et al., 2012

CYP2C19*30

CYP2C19.30

217C>T

12401C>T

(Potentially exists on a CYP2C19*1B or *1C background)

 

R73C

 

 

Hu et al., 2012

CYP2C19*31

CYP2C19.31

99C>T; 232C>T; 991A>G

99C>T; 12416C>T; 80161A>G

 

H78Y; I331V

 

 

Hu et al., 2012

CYP2C19*32

CYP2C19.32

99C>T; 296A>G; 991A>G

99C>T; 12480A>G; 80161A>G

 

H99R; I331V

 

 

Hu et al., 2012

CYP2C19*33

CYP2C19.33

99C>T: 562G>A; 991A>G

99C>T; 17874G>A; 80161A>G

 

D188N; I331V

 

 

Hu et al., 2012

CYP2C19*34

CYP2C19.34

-13G>A; 7C>T; 10T>C

-13G>A; 7C>T; 10T>C

 

P3S; F4L

 

 

Chua et al., 2013

Additional SNPs, where the haplotype has not yet been determined

 

 

221T>C

 

 

M74T

 

 

Solus et al., 2004

 

 

502T>C

 

 

F168L

 

 

Solus et al., 2004

 

 

337G>A

 

 

V113I

 

 

Matimba et al., 2009

 

 

905C>G

 

 

T302R

 

 

Chen et al., 2008

 

 

1180G>A

 

 

V394M

 

 

Lee et al., 2009

 

 

183T>C

 

 

 

 

 

Drögemöller et al., 2010

 

 

 -1418C>T

 

 

 

 

Drögemöller et al., 2010

 

 

46C>T

46C>T
(Linkage with *2 is unclear)

 

L16F

 

 

Hu et al., 2012

 

 

101_102insCCTAC

101_102insCCTAC
(Linkage with *2 is unclear)

 

35Frameshift

 

 

Hu et al., 2012

 

 

371G>A

12724G>A
(Linkage with *2 is unclear)

 

R124Q

 

 

Hu et al., 2012

 

 

373C>G

12726C>G
(Linkage with *2 and *3 is unclear)

 

R125G

 

 

Hu et al., 2012

 

 

389C>T

12742C>T

(Linkage with *2 is unclear)

 

T130M

 

 

Hu et al., 2012

 

 

692A>C

19165A>C
(Linkage with *2 is unclear)

 

N231T

 

 

Hu et al., 2012

 

 

764T>C

19237T>C
(Linkage with *3 is unclear)

 

M255T

 

 

Hu et al., 2012

 

 

781C>T

19254C>T
(Linkage with *2 is unclear)

 

R261W

 

 

Hu et al., 2012

 

 

831C>A

57802C>A
(Linkage with *2 and *3 is unclear)

 

N277K

 

 

Hu et al., 2012

 

 

908G>A

57879G>A
(Linkage with *2 is unclear)

 

S303N

 

 

Hu et al., 2012

 

 

980T>C

80150T>C
(Linkage with *2 is unclear)

 

I327T

 

 

Hu et al., 2012

 

 

1208A>T

87270A>T
(Linkage with *2 is unclear)

 

N403I

 

 

Hu et al., 2012

 

 

1289C>T

87351C>T
(Linkage with *3 is unclear)

 

A430V

 

 

Hu et al., 2012

 

 

463G>T

In linkage with CYP2C19*17
(-806C>T)

 

E155X

 

 

Skierka and Black, 2014

Changes made since the last update (21-Jan-2014) are marked in red.

Allele frequencies: Xie et al., 2001; Mizutani, 2003; Solus et al., 2004

Links to the NCBI dbSNP homepage are available for SNPs when present in NCBI's database.

Nucleotide variations in bold are the major SNPs/alterations responsible for the phenotype of the corresponding allele.

OMIM  GeneCards

 

 

 

     

   

 

 

 

 

 

 

 

 

 

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This page was updated 8-Sep-2014 by Sarah C Sim
Questions and comments are always welcome