Canonical Allele Identifier: CA378841981
Gene: CYP2E1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133538788G>C , CM000672.2:g.133538788G>C GRCh38
NC_000010.10:g.135352292G>C , CM000672.1:g.135352292G>C GRCh37
NC_000010.9:g.135202282G>C NCBI36
NG_008383.1:g.16426G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.1306G>C MANE Select ENSP00000252945.3:p.Val436Leu
ENST00000252945.7:c.1306G>C ENSP00000252945.3:p.Val436Leu
ENST00000368520.1:n.1358+896G>C
ENST00000418356.1:c.895G>C ENSP00000397299.1:p.Val299Leu
ENST00000421586.5:c.1045G>C ENSP00000412754.1:p.Val349Leu
ENST00000463117.6:c.1306G>C ENSP00000440689.1:p.Val436Leu
ENST00000469258.1:n.402G>C
ENST00000541080.5:c.722G>C
NM_000773.3:c.1306G>C NP_000764.1:p.Val436Leu
NM_000773.4:c.1306G>C MANE Select NP_000764.1:p.Val436Leu