Canonical Allele Identifier: CA393179035
Gene: CYP1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74750231G>C , CM000677.2:g.74750231G>C GRCh38
NC_000015.9:g.75042572G>C , CM000677.1:g.75042572G>C GRCh37
NC_000015.8:g.72829625G>C NCBI36
NG_008431.1:g.32690G>C
NG_008431.2:g.32690G>C
NG_061543.1:g.6387G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.493G>C MANE Select ENSP00000342007.4:p.Val165Leu
ENST00000343932.4:c.493G>C ENSP00000342007.4:p.Val165Leu
NM_000761.4:c.493G>C NP_000752.2:p.Val165Leu
NM_000761.5:c.493G>C MANE Select NP_000752.2:p.Val165Leu