Canonical Allele Identifier: CA250626

Gene: POU1F1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87262160C>T , CM000665.2:g.87262160C>T	GRCh38
NC_000003.11:g.87311310C>T , CM000665.1:g.87311310C>T	GRCh37
NC_000003.10:g.87394000C>T	NCBI36
NG_008225.2:g.19428G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000306.4:c.515G>A MANE Select	NP_000297.1:p.Arg172Gln
ENST00000350375.7:c.515G>A MANE Select	ENSP00000263781.2:p.Arg172Gln
NM_000306.3:c.515G>A	NP_000297.1:p.Arg172Gln
NM_001122757.2:c.593G>A	NP_001116229.1:p.Arg198Gln
NM_001122757.3:c.593G>A	NP_001116229.1:p.Arg198Gln
ENST00000344265.7:c.593G>A	ENSP00000342931.3:p.Arg198Gln
ENST00000344265.8:c.593G>A	ENSP00000342931.3:p.Arg198Gln
ENST00000350375.6:c.515G>A	ENSP00000263781.2:p.Arg172Gln
ENST00000560656.1:c.440-2056G>A	ENSP00000452610.1:n.440-2056G>A
ENST00000561167.5:c.290G>A	ENSP00000454072.1:p.Arg97Gln