Canonical Allele Identifier: CA377677270
Gene: CYP2C8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.95037147A>G , CM000672.2:g.95037147A>G GRCh38
NC_000010.10:g.96796904A>G , CM000672.1:g.96796904A>G GRCh37
NC_000010.9:g.96786894A>G NCBI36
NG_007972.1:g.37351T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371270.6:c.1454T>C MANE Select ENSP00000360317.3:p.Ile485Thr
ENST00000371270.5:c.1454T>C ENSP00000360317.3:p.Ile485Thr
ENST00000490994.6:c.*1240T>C ENSP00000433314.1:n.*1240T>C
ENST00000525991.5:c.*1029T>C ENSP00000433842.1:n.*1029T>C
ENST00000526814.5:n.1709T>C
ENST00000527420.5:c.*311T>C ENSP00000433191.1:n.*311T>C
ENST00000527953.5:n.1748T>C
ENST00000533320.5:n.1688T>C
ENST00000535898.5:c.1148T>C ENSP00000445062.1:p.Ile383Thr
ENST00000539050.5:c.1244T>C ENSP00000442343.2:p.Ile415Thr
ENST00000623108.3:c.1244T>C ENSP00000485110.1:p.Ile415Thr
NM_000770.3:c.1454T>C MANE Select NP_000761.3:p.Ile485Thr
NM_001198853.1:c.1244T>C NP_001185782.1:p.Ile415Thr
NM_001198854.1:c.1148T>C NP_001185783.1:p.Ile383Thr
NM_001198855.1:c.1244T>C NP_001185784.1:p.Ile415Thr