Canonical Allele Identifier: CA250605

Gene: POU1F1

Linked Data

• ClinVar Variation Id: 13604
• ClinVar RCV Id: RCV000014574 ; RCV001573935
• dbSNP Id: rs104893756
• ExAC: 3:87311353 C / G
• gnomAD v2: 3-87311353-C-G
• gnomAD v3: 3-87262203-C-G
• gnomAD v4: 3-87262203-C-G
• MyVariant Identifiers: chr3:g.87311353C>G (hg19) ; chr3:g.87262203C>G (hg38)
• PubMed: PMID:1509263 ; PMID:2634610

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87262203C>G , CM000665.2:g.87262203C>G	GRCh38
NC_000003.11:g.87311353C>G , CM000665.1:g.87311353C>G	GRCh37
NC_000003.10:g.87394043C>G	NCBI36
NG_008225.2:g.19385G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000344265.8:c.550G>C	ENSP00000342931.3:p.Ala184Pro
ENST00000350375.7:c.472G>C MANE Select	ENSP00000263781.2:p.Ala158Pro
ENST00000344265.7:c.550G>C	ENSP00000342931.3:p.Ala184Pro
ENST00000350375.6:c.472G>C	ENSP00000263781.2:p.Ala158Pro
ENST00000560656.1:c.439+2085G>C	ENSP00000452610.1:n.439+2085G>C
ENST00000561167.5:c.247G>C	ENSP00000454072.1:p.Ala83Pro
NM_000306.3:c.472G>C	NP_000297.1:p.Ala158Pro
NM_001122757.2:c.550G>C	NP_001116229.1:p.Ala184Pro
NM_000306.4:c.472G>C MANE Select	NP_000297.1:p.Ala158Pro
NM_001122757.3:c.550G>C	NP_001116229.1:p.Ala184Pro