Canonical Allele Identifier: CA2501074

Gene: POU1F1

Linked Data

• ClinVar Variation Id: 2734543
• ClinVar RCV Id: RCV003555091
• dbSNP Id: rs780359925
• ExAC: 3:87309127 G / A
• gnomAD v2: 3-87309127-G-A
• gnomAD v4: 3-87259977-G-A
• MyVariant Identifiers: chr3:g.87309127G>A (hg19) ; chr3:g.87259977G>A (hg38)

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
ENST00000344265.8:c.871C>T	ENSP00000342931.3:p.Arg291Trp
ENST00000350375.7:c.793C>T MANE Select	ENSP00000263781.2:p.Arg265Trp
ENST00000344265.7: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
NM_000306.3:c.793C>T	NP_000297.1:p.Arg265Trp
NM_001122757.2:c.871C>T	NP_001116229.1:p.Arg291Trp
NM_000306.4:c.793C>T MANE Select	NP_000297.1:p.Arg265Trp
NM_001122757.3:c.871C>T	NP_001116229.1:p.Arg291Trp