Canonical Allele Identifier: CA2187825579
Gene: CYP1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74751852T= , CM000677.2:g.74751852T= GRCh38
NC_000015.9:g.75044193T= , CM000677.1:g.75044193T= GRCh37
NC_000015.8:g.72831246T= NCBI36
NG_008431.1:g.34311T=
NG_008431.2:g.34311T=
NG_061543.1:g.8008T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.1040T= MANE Select ENSP00000342007.4:p.Leu347=
ENST00000343932.4:c.1040T= ENSP00000342007.4:p.Leu347=
NM_000761.4:c.1040T= NP_000752.2:p.Leu347=
NM_000761.5:c.1040T= MANE Select NP_000752.2:p.Leu347=