Canonical Allele Identifier: CA378841948
Gene: CYP2E1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133538783A>C , CM000672.2:g.133538783A>C GRCh38
NC_000010.10:g.135352287A>C , CM000672.1:g.135352287A>C GRCh37
NC_000010.9:g.135202277A>C NCBI36
NG_008383.1:g.16421A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.1301A>C MANE Select ENSP00000252945.3:p.Lys434Thr
ENST00000252945.7:c.1301A>C ENSP00000252945.3:p.Lys434Thr
ENST00000368520.1:n.1358+891A>C
ENST00000418356.1:c.890A>C ENSP00000397299.1:p.Lys297Thr
ENST00000421586.5:c.1040A>C ENSP00000412754.1:p.Lys347Thr
ENST00000463117.6:c.1301A>C ENSP00000440689.1:p.Lys434Thr
ENST00000469258.1:n.397A>C
ENST00000541080.5:c.717A>C
NM_000773.3:c.1301A>C NP_000764.1:p.Lys434Thr
NM_000773.4:c.1301A>C MANE Select NP_000764.1:p.Lys434Thr