Canonical Allele Identifier: CA393179364
Gene: CYP1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74750333G>C , CM000677.2:g.74750333G>C GRCh38
NC_000015.9:g.75042674G>C , CM000677.1:g.75042674G>C GRCh37
NC_000015.8:g.72829727G>C NCBI36
NG_008431.1:g.32792G>C
NG_008431.2:g.32792G>C
NG_061543.1:g.6489G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.595G>C MANE Select ENSP00000342007.4:p.Val199Leu
ENST00000343932.4:c.595G>C ENSP00000342007.4:p.Val199Leu
NM_000761.4:c.595G>C NP_000752.2:p.Val199Leu
NM_000761.5:c.595G>C MANE Select NP_000752.2:p.Val199Leu