Canonical Allele Identifier: CA2501074
Community Standard Title: NM_000306.4(POU1F1):c.793C>T (p.Arg265Trp)
Gene: POU1F1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87259977G>A , CM000665.2:g.87259977G>A GRCh38
NC_000003.11:g.87309127G>A , CM000665.1:g.87309127G>A GRCh37
NC_000003.10:g.87391817G>A NCBI36
NG_008225.2:g.21611C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000306.4:c.793C>T MANE Select NP_000297.1:p.Arg265Trp
ENST00000350375.7:c.793C>T MANE Select ENSP00000263781.2:p.Arg265Trp
NM_000306.3:c.793C>T NP_000297.1:p.Arg265Trp
NM_001122757.2:c.871C>T NP_001116229.1:p.Arg291Trp
NM_001122757.3:c.871C>T NP_001116229.1:p.Arg291Trp
ENST00000344265.7:c.871C>T ENSP00000342931.3:p.Arg291Trp
ENST00000344265.8:c.871C>T ENSP00000342931.3:p.Arg291Trp
ENST00000350375.6:c.793C>T ENSP00000263781.2:p.Arg265Trp
ENST00000560656.1:c.567C>T ENSP00000452610.1:n.567C>T
ENST00000561167.5:c.568C>T ENSP00000454072.1:p.Arg190Trp