Canonical Allele Identifier: CA393179334
Gene: CYP1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74750322C>T , CM000677.2:g.74750322C>T GRCh38
NC_000015.9:g.75042663C>T , CM000677.1:g.75042663C>T GRCh37
NC_000015.8:g.72829716C>T NCBI36
NG_008431.1:g.32781C>T
NG_008431.2:g.32781C>T
NG_061543.1:g.6478C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.584C>T MANE Select ENSP00000342007.4:p.Ser195Leu
ENST00000343932.4:c.584C>T ENSP00000342007.4:p.Ser195Leu
NM_000761.4:c.584C>T NP_000752.2:p.Ser195Leu
NM_000761.5:c.584C>T MANE Select NP_000752.2:p.Ser195Leu