Canonical Allele Identifier: CA250609

Gene: POU1F1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87264299C>T , CM000665.2:g.87264299C>T	GRCh38
NC_000003.11:g.87313449C>T , CM000665.1:g.87313449C>T	GRCh37
NC_000003.10:g.87396139C>T	NCBI36
NG_008225.2:g.17289G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000306.4:c.428G>A MANE Select	NP_000297.1:p.Arg143Gln
ENST00000350375.7:c.428G>A MANE Select	ENSP00000263781.2:p.Arg143Gln
NM_000306.3:c.428G>A	NP_000297.1:p.Arg143Gln
NM_001122757.2:c.506G>A	NP_001116229.1:p.Arg169Gln
NM_001122757.3:c.506G>A	NP_001116229.1:p.Arg169Gln
ENST00000344265.7:c.506G>A	ENSP00000342931.3:p.Arg169Gln
ENST00000344265.8:c.506G>A	ENSP00000342931.3:p.Arg169Gln
ENST00000350375.6:c.428G>A	ENSP00000263781.2:p.Arg143Gln
ENST00000560656.1:c.428G>A	ENSP00000452610.1:p.Arg143Gln
ENST00000561167.5:c.215-2064G>A	ENSP00000454072.1:n.215-2064G>A