Canonical Allele Identifier: CA393164597
Gene: CYP1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74751809C>T , CM000677.2:g.74751809C>T GRCh38
NC_000015.9:g.75044150C>T , CM000677.1:g.75044150C>T GRCh37
NC_000015.8:g.72831203C>T NCBI36
NG_008431.1:g.34268C>T
NG_008431.2:g.34268C>T
NG_061543.1:g.7965C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000343932.5:c.997C>T MANE Select ENSP00000342007.4:p.Leu333Phe
ENST00000343932.4:c.997C>T ENSP00000342007.4:p.Leu333Phe
NM_000761.4:c.997C>T NP_000752.2:p.Leu333Phe
NM_000761.5:c.997C>T MANE Select NP_000752.2:p.Leu333Phe