Canonical Allele Identifier: CA5767835
Community Standard Title: NM_000773.4(CYP2E1):c.1263C= (p.Phe421=)
Gene: CYP2E1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133537858C= , CM000672.2:g.133537858C= GRCh38
NG_008383.1:g.15496C=

Transcript Alleles

HGVS Amino-acid Change
NM_000773.4:c.1263C= MANE Select NP_000764.1:p.Phe421=
ENST00000252945.8:c.1263C= MANE Select ENSP00000252945.3:p.Phe421=
NM_000773.3:c.1263C= NP_000764.1:p.Phe421=
ENST00000252945.7:c.1263C= ENSP00000252945.3:p.Phe421=
ENST00000368520.1:n.1324C=
ENST00000418356.1:c.852C= ENSP00000397299.1:p.Phe284=
ENST00000421586.5:c.1002C= ENSP00000412754.1:p.Phe334=
ENST00000463117.6:c.1263C= ENSP00000440689.1:p.Phe421=
ENST00000469258.1:n.359C=
ENST00000541080.5:c.679C=