Canonical Allele Identifier: CA250628

Gene: POU1F1

Linked Data

• ClinVar Variation Id: 13615
• ClinVar RCV Id: RCV000014585
• dbSNP Id: rs587776799
• gnomAD v4: 3-87259994-C-CT
• MyVariant Identifiers: chr3:g.87309145dupT (hg19) ; chr3:g.87259995dupT (hg38)
• PubMed: PMID:15928241

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87259996dup , CM000665.2:g.87259996dup	GRCh38
NC_000003.11:g.87309146dup , CM000665.1:g.87309146dup	GRCh37
NC_000003.10:g.87391836dup	NCBI36
NG_008225.2:g.21593dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344265.8:c.853dup	ENSP00000342931.3:p.Arg285LysfsTer27
ENST00000350375.7:c.775dup MANE Select	ENSP00000263781.2:p.Arg259LysfsTer27
ENST00000344265.7:c.853dup	ENSP00000342931.3:p.Arg285LysfsTer27
ENST00000350375.6:c.775dup	ENSP00000263781.2:p.Arg259LysfsTer27
ENST00000560656.1:c.549dup	ENSP00000452610.1:n.549dup
ENST00000561167.5:c.550dup	ENSP00000454072.1:p.Arg184LysfsTer27
NM_000306.3:c.775dup	NP_000297.1:p.Arg259LysfsTer27
NM_001122757.2:c.853dup	NP_001116229.1:p.Arg285LysfsTer27
NM_000306.4:c.775dup MANE Select	NP_000297.1:p.Arg259LysfsTer27
NM_001122757.3:c.853dup	NP_001116229.1:p.Arg285LysfsTer27