Canonical Allele Identifier: CA393179123
Gene: CYP1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74750253T>C , CM000677.2:g.74750253T>C GRCh38
NC_000015.9:g.75042594T>C , CM000677.1:g.75042594T>C GRCh37
NC_000015.8:g.72829647T>C NCBI36
NG_008431.1:g.32712T>C
NG_008431.2:g.32712T>C
NG_061543.1:g.6409T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.515T>C MANE Select ENSP00000342007.4:p.Leu172Pro
ENST00000343932.4:c.515T>C ENSP00000342007.4:p.Leu172Pro
NM_000761.4:c.515T>C NP_000752.2:p.Leu172Pro
NM_000761.5:c.515T>C MANE Select NP_000752.2:p.Leu172Pro