Canonical Allele Identifier: CA378842358
Gene: CYP2E1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133538846T>A , CM000672.2:g.133538846T>A GRCh38
NC_000010.10:g.135352350T>A , CM000672.1:g.135352350T>A GRCh37
NC_000010.9:g.135202340T>A NCBI36
NG_008383.1:g.16484T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.1364T>A MANE Select ENSP00000252945.3:p.Leu455Ter
ENST00000252945.7:c.1364T>A ENSP00000252945.3:p.Leu455Ter
ENST00000368520.1:n.1358+954T>A
ENST00000463117.6:c.1364T>A ENSP00000440689.1:p.Leu455Ter
ENST00000469258.1:n.460T>A
NM_000773.3:c.1364T>A NP_000764.1:p.Leu455Ter
NM_000773.4:c.1364T>A MANE Select NP_000764.1:p.Leu455Ter