Canonical Allele Identifier: CA5617483

Gene: CYP2C8

Linked Data

• dbSNP Id: rs369600584
• ExAC: 10:96797031 T / G
• gnomAD v2: 10-96797031-T-G
• gnomAD v3: 10-95037274-T-G
• gnomAD v4: 10-95037274-T-G
• MyVariant Identifiers: chr10:g.96797031T>G (hg19) ; chr10:g.95037274T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95037274T>G , CM000672.2:g.95037274T>G	GRCh38
NC_000010.10:g.96797031T>G , CM000672.1:g.96797031T>G	GRCh37
NC_000010.9:g.96787021T>G	NCBI36
NG_007972.1:g.37224A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371270.6:c.1327A>C MANE Select	ENSP00000360317.3:p.Met443Leu
ENST00000371270.5:c.1327A>C	ENSP00000360317.3:p.Met443Leu
ENST00000490994.6:c.*1113A>C	ENSP00000433314.1:n.*1113A>C
ENST00000525991.5:c.*902A>C	ENSP00000433842.1:n.*902A>C
ENST00000526814.5:n.1582A>C
ENST00000527420.5:c.*184A>C	ENSP00000433191.1:n.*184A>C
ENST00000527953.5:n.1621A>C
ENST00000531714.1:n.515A>C
ENST00000533320.5:n.1561A>C
ENST00000535898.5:c.1021A>C	ENSP00000445062.1:p.Met341Leu
ENST00000539050.5:c.1117A>C	ENSP00000442343.2:p.Met373Leu
ENST00000623108.3:c.1117A>C	ENSP00000485110.1:p.Met373Leu
NM_000770.3:c.1327A>C MANE Select	NP_000761.3:p.Met443Leu
NM_001198853.1:c.1117A>C	NP_001185782.1:p.Met373Leu
NM_001198854.1:c.1021A>C	NP_001185783.1:p.Met341Leu
NM_001198855.1:c.1117A>C	NP_001185784.1:p.Met373Leu
XR_945610.1:n.1462A>C