Canonical Allele Identifier: CA2501197

Gene: POU1F1

Linked Data

• dbSNP Id: rs752644019
• ExAC: 3:87313391 A / T
• gnomAD v2: 3-87313391-A-T
• gnomAD v4: 3-87264241-A-T
• MyVariant Identifiers: chr3:g.87313391A>T (hg19) ; chr3:g.87264241A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87264241A>T , CM000665.2:g.87264241A>T	GRCh38
NC_000003.11:g.87313391A>T , CM000665.1:g.87313391A>T	GRCh37
NC_000003.10:g.87396081A>T	NCBI36
NG_008225.2:g.17347T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000344265.8:c.517+47T>A	ENSP00000342931.3:n.517+47T>A
ENST00000350375.7:c.439+47T>A MANE Select	ENSP00000263781.2:n.439+47T>A
ENST00000344265.7:c.517+47T>A	ENSP00000342931.3:n.517+47T>A
ENST00000350375.6:c.439+47T>A	ENSP00000263781.2:n.439+47T>A
ENST00000560656.1:c.439+47T>A	ENSP00000452610.1:n.439+47T>A
ENST00000561167.5:c.215-2006T>A	ENSP00000454072.1:n.215-2006T>A
NM_000306.3:c.439+47T>A	NP_000297.1:n.439+47T>A
NM_001122757.2:c.517+47T>A	NP_001116229.1:n.517+47T>A
NM_000306.4:c.439+47T>A MANE Select	NP_000297.1:n.439+47T>A
NM_001122757.3:c.517+47T>A	NP_001116229.1:n.517+47T>A