Canonical Allele Identifier: CA378842760
Gene: CYP2E1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.135352427A>C (hg19) chr10:g.133538923A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133538923A>C , CM000672.2:g.133538923A>C GRCh38
NC_000010.10:g.135352427A>C , CM000672.1:g.135352427A>C GRCh37
NC_000010.9:g.135202417A>C NCBI36
NG_008383.1:g.16561A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.1441A>C MANE Select ENSP00000252945.3:p.Ile481Leu
ENST00000252945.7:c.1441A>C ENSP00000252945.3:p.Ile481Leu
ENST00000368520.1:n.1358+1031A>C
ENST00000463117.6:c.1441A>C ENSP00000440689.1:p.Ile481Leu
ENST00000469258.1:n.537A>C
NM_000773.3:c.1441A>C NP_000764.1:p.Ile481Leu
NM_000773.4:c.1441A>C MANE Select NP_000764.1:p.Ile481Leu
Search 100 bp 5'
Search 100 bp 3'