Canonical Allele Identifier: CA5617456

Gene: CYP2C8

Linked Data

• dbSNP Id: rs140481138
• ExAC: 10:96796892 G / A
• gnomAD v2: 10-96796892-G-A
• gnomAD v3: 10-95037135-G-A
• gnomAD v4: 10-95037135-G-A
• MyVariant Identifiers: chr10:g.96796892G>A (hg19) ; chr10:g.95037135G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95037135G>A , CM000672.2:g.95037135G>A	GRCh38
NC_000010.10:g.96796892G>A , CM000672.1:g.96796892G>A	GRCh37
NC_000010.9:g.96786882G>A	NCBI36
NG_007972.1:g.37363C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371270.6:c.1466C>T MANE Select	ENSP00000360317.3:p.Pro489Leu
ENST00000371270.5:c.1466C>T	ENSP00000360317.3:p.Pro489Leu
ENST00000490994.6:c.*1252C>T	ENSP00000433314.1:n.*1252C>T
ENST00000525991.5:c.*1041C>T	ENSP00000433842.1:n.*1041C>T
ENST00000526814.5:n.1721C>T
ENST00000527420.5:c.*323C>T	ENSP00000433191.1:n.*323C>T
ENST00000527953.5:n.1760C>T
ENST00000533320.5:n.1700C>T
ENST00000535898.5:c.1160C>T	ENSP00000445062.1:p.Pro387Leu
ENST00000539050.5:c.1256C>T	ENSP00000442343.2:p.Pro419Leu
ENST00000623108.3:c.1256C>T	ENSP00000485110.1:p.Pro419Leu
NM_000770.3:c.1466C>T MANE Select	NP_000761.3:p.Pro489Leu
NM_001198853.1:c.1256C>T	NP_001185782.1:p.Pro419Leu
NM_001198854.1:c.1160C>T	NP_001185783.1:p.Pro387Leu
NM_001198855.1:c.1256C>T	NP_001185784.1:p.Pro419Leu