Canonical Allele Identifier: CA2501228

Gene: POU1F1

Linked Data

• dbSNP Id: rs777904227
• ExAC: 3:87313542 C / T
• gnomAD v2: 3-87313542-C-T
• gnomAD v4: 3-87264392-C-T
• MyVariant Identifiers: chr3:g.87313542C>T (hg19) ; chr3:g.87264392C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87264392C>T , CM000665.2:g.87264392C>T	GRCh38
NC_000003.11:g.87313542C>T , CM000665.1:g.87313542C>T	GRCh37
NC_000003.10:g.87396232C>T	NCBI36
NG_008225.2:g.17196G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344265.8:c.413G>A	ENSP00000342931.3:p.Arg138Lys
ENST00000350375.7:c.335G>A MANE Select	ENSP00000263781.2:p.Arg112Lys
ENST00000344265.7:c.413G>A	ENSP00000342931.3:p.Arg138Lys
ENST00000350375.6:c.335G>A	ENSP00000263781.2:p.Arg112Lys
ENST00000560656.1:c.335G>A	ENSP00000452610.1:p.Arg112Lys
ENST00000561167.5:c.215-2157G>A	ENSP00000454072.1:n.215-2157G>A
NM_000306.3:c.335G>A	NP_000297.1:p.Arg112Lys
NM_001122757.2:c.413G>A	NP_001116229.1:p.Arg138Lys
NM_000306.4:c.335G>A MANE Select	NP_000297.1:p.Arg112Lys
NM_001122757.3:c.413G>A	NP_001116229.1:p.Arg138Lys