Canonical Allele Identifier: CA377677471
Gene: CYP2C8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.95037242T>G , CM000672.2:g.95037242T>G GRCh38
NC_000010.10:g.96796999T>G , CM000672.1:g.96796999T>G GRCh37
NC_000010.9:g.96786989T>G NCBI36
NG_007972.1:g.37256A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371270.6:c.1359A>C MANE Select ENSP00000360317.3:p.Leu453Phe
ENST00000371270.5:c.1359A>C ENSP00000360317.3:p.Leu453Phe
ENST00000490994.6:c.*1145A>C ENSP00000433314.1:n.*1145A>C
ENST00000525991.5:c.*934A>C ENSP00000433842.1:n.*934A>C
ENST00000526814.5:n.1614A>C
ENST00000527420.5:c.*216A>C ENSP00000433191.1:n.*216A>C
ENST00000527953.5:n.1653A>C
ENST00000531714.1:n.547A>C
ENST00000533320.5:n.1593A>C
ENST00000535898.5:c.1053A>C ENSP00000445062.1:p.Leu351Phe
ENST00000539050.5:c.1149A>C ENSP00000442343.2:p.Leu383Phe
ENST00000623108.3:c.1149A>C ENSP00000485110.1:p.Leu383Phe
NM_000770.3:c.1359A>C MANE Select NP_000761.3:p.Leu453Phe
NM_001198853.1:c.1149A>C NP_001185782.1:p.Leu383Phe
NM_001198854.1:c.1053A>C NP_001185783.1:p.Leu351Phe
NM_001198855.1:c.1149A>C NP_001185784.1:p.Leu383Phe
XR_945610.1:n.1494A>C