Canonical Allele Identifier: CA1929377032
Community Standard Title: NM_000770.3(CYP2C8):c.805A= (p.Ile269=)
Gene: CYP2C8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.95058349T= , CM000672.2:g.95058349T= GRCh38
NC_000010.10:g.96818106T= , CM000672.1:g.96818106T= GRCh37
NC_000010.9:g.96808096T= NCBI36
NG_007972.1:g.16149A=

Transcript Alleles

HGVS Amino-acid Change
NM_000770.3:c.805A= MANE Select NP_000761.3:p.Ile269=
ENST00000371270.6:c.805A= MANE Select ENSP00000360317.3:p.Ile269=
NM_001198853.1:c.595A= NP_001185782.1:p.Ile199=
NM_001198854.1:c.499A= NP_001185783.1:p.Ile167=
NM_001198855.1:c.595A= NP_001185784.1:p.Ile199=
ENST00000371270.5:c.805A= ENSP00000360317.3:p.Ile269=
ENST00000479946.2:n.1109A=
ENST00000490994.6:c.*591A= ENSP00000433314.1:n.*591A=
ENST00000525991.5:c.*380A= ENSP00000433842.1:n.*380A=
ENST00000526814.5:n.1060A=
ENST00000527420.5:c.805A= ENSP00000433191.1:p.Ile269=
ENST00000527953.5:n.1060A=
ENST00000533320.5:n.1039A=
ENST00000535898.5:c.499A= ENSP00000445062.1:p.Ile167=
ENST00000539050.5:c.595A= ENSP00000442343.2:p.Ile199=
ENST00000623108.3:c.595A= ENSP00000485110.1:p.Ile199=
ENST00000628935.1:c.547A= ENSP00000487145.1:p.Ile183=
XR_945610.1:n.901A=