Canonical Allele Identifier: CA393178357
Gene: CYP1A2 HGNC NCBI

Linked Data

dbSNP Id: rs377141209

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74750084C>G , CM000677.2:g.74750084C>G GRCh38
NC_000015.9:g.75042425C>G , CM000677.1:g.75042425C>G GRCh37
NC_000015.8:g.72829478C>G NCBI36
NG_008431.1:g.32543C>G
NG_008431.2:g.32543C>G
NG_061543.1:g.6240C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.346C>G MANE Select ENSP00000342007.4:p.Leu116Val
ENST00000343932.4:c.346C>G ENSP00000342007.4:p.Leu116Val
NM_000761.4:c.346C>G NP_000752.2:p.Leu116Val
NM_000761.5:c.346C>G MANE Select NP_000752.2:p.Leu116Val