Canonical Allele Identifier: CA2501081

Gene: POU1F1

Linked Data

• dbSNP Id: rs776545755
• ExAC: 3:87309153 T / A
• gnomAD v2: 3-87309153-T-A
• gnomAD v4: 3-87260003-T-A
• MyVariant Identifiers: chr3:g.87309153T>A (hg19) ; chr3:g.87260003T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87260003T>A , CM000665.2:g.87260003T>A	GRCh38
NC_000003.11:g.87309153T>A , CM000665.1:g.87309153T>A	GRCh37
NC_000003.10:g.87391843T>A	NCBI36
NG_008225.2:g.21585A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344265.8:c.845A>T	ENSP00000342931.3:p.Glu282Val
ENST00000350375.7:c.767A>T MANE Select	ENSP00000263781.2:p.Glu256Val
ENST00000344265.7:c.845A>T	ENSP00000342931.3:p.Glu282Val
ENST00000350375.6:c.767A>T	ENSP00000263781.2:p.Glu256Val
ENST00000560656.1:c.541A>T	ENSP00000452610.1:n.541A>T
ENST00000561167.5:c.542A>T	ENSP00000454072.1:p.Glu181Val
NM_000306.3:c.767A>T	NP_000297.1:p.Glu256Val
NM_001122757.2:c.845A>T	NP_001116229.1:p.Glu282Val
NM_000306.4:c.767A>T MANE Select	NP_000297.1:p.Glu256Val
NM_001122757.3:c.845A>T	NP_001116229.1:p.Glu282Val