Canonical Allele Identifier: CA5767624
Gene: CYP2E1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs6413419

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133532171G>A , CM000672.2:g.133532171G>A GRCh38
NC_000010.10:g.135345675G>A , CM000672.1:g.135345675G>A GRCh37
NC_000010.9:g.135195665G>A NCBI36
NG_008383.1:g.9809G>A

Transcript Alleles

HGVS Amino-acid change
NM_000773.3:c.535G>A VV NP_000764.1:p.Val179Ile
NM_000773.4:c.535G>A VV MANE Preferred NP_000764.1:p.Val179Ile
ENST00000252945.7:c.535G>A ENSP00000252945.3:p.Val179Ile
ENST00000368520.1:n.596G>A
ENST00000418356.1:n.124G>A ENSP00000397299.1:p.Val42Ile
ENST00000421586.5:n.274G>A ENSP00000412754.1:p.Val92Ile
ENST00000463117.6:c.535G>A ENSP00000440689.1:p.Val179Ile
ENST00000477500.5:n.448+437G>A
ENST00000541080.5:n.226+437G>A