Canonical Allele Identifier: CA353698119

Gene: POU1F1

Linked Data

• ClinVar Variation Id: 502259
• ClinVar RCV Id: RCV000593369
• dbSNP Id: rs1553674729
• MyVariant Identifiers: chr3:g.87309123C>G (hg19) ; chr3:g.87259973C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87259973C>G , CM000665.2:g.87259973C>G	GRCh38
NC_000003.11:g.87309123C>G , CM000665.1:g.87309123C>G	GRCh37
NC_000003.10:g.87391813C>G	NCBI36
NG_008225.2:g.21615G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344265.8:c.875G>C	ENSP00000342931.3:p.Arg292Thr
ENST00000350375.7:c.797G>C MANE Select	ENSP00000263781.2:p.Arg266Thr
ENST00000344265.7:c.875G>C	ENSP00000342931.3:p.Arg292Thr
ENST00000350375.6:c.797G>C	ENSP00000263781.2:p.Arg266Thr
ENST00000560656.1:c.571G>C	ENSP00000452610.1:n.571G>C
ENST00000561167.5:c.572G>C	ENSP00000454072.1:p.Arg191Thr
NM_000306.3:c.797G>C	NP_000297.1:p.Arg266Thr
NM_001122757.2:c.875G>C	NP_001116229.1:p.Arg292Thr
NM_000306.4:c.797G>C MANE Select	NP_000297.1:p.Arg266Thr
NM_001122757.3:c.875G>C	NP_001116229.1:p.Arg292Thr