Canonical Allele Identifier: CA378835314

Gene: CYP2E1

Linked Data

• MyVariant Identifiers: chr10:g.135345693T>A (hg19) ; chr10:g.133532189T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133532189T>A , CM000672.2:g.133532189T>A	GRCh38
NC_000010.10:g.135345693T>A , CM000672.1:g.135345693T>A	GRCh37
NC_000010.9:g.135195683T>A	NCBI36
NG_008383.1:g.9827T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252945.8:c.553T>A MANE Select	ENSP00000252945.3:p.Phe185Ile
ENST00000252945.7:c.553T>A	ENSP00000252945.3:p.Phe185Ile
ENST00000368520.1:n.614T>A
ENST00000418356.1:c.142T>A	ENSP00000397299.1:p.Phe48Ile
ENST00000421586.5:c.292T>A	ENSP00000412754.1:p.Phe98Ile
ENST00000463117.6:c.553T>A	ENSP00000440689.1:p.Phe185Ile
ENST00000477500.5:n.448+455T>A
ENST00000541080.5:c.226+455T>A
NM_000773.3:c.553T>A	NP_000764.1:p.Phe185Ile
NM_000773.4:c.553T>A MANE Select	NP_000764.1:p.Phe185Ile