Canonical Allele Identifier: CA353698275

Gene: POU1F1

Linked Data

• dbSNP Id: rs1706478509
• gnomAD v4: 3-87260041-C-G
• MyVariant Identifiers: chr3:g.87309191C>G (hg19) ; chr3:g.87260041C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87260041C>G , CM000665.2:g.87260041C>G	GRCh38
NC_000003.11:g.87309191C>G , CM000665.1:g.87309191C>G	GRCh37
NC_000003.10:g.87391881C>G	NCBI36
NG_008225.2:g.21547G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344265.8:c.807G>C	ENSP00000342931.3:p.Glu269Asp
ENST00000350375.7:c.729G>C MANE Select	ENSP00000263781.2:p.Glu243Asp
ENST00000344265.7:c.807G>C	ENSP00000342931.3:p.Glu269Asp
ENST00000350375.6:c.729G>C	ENSP00000263781.2:p.Glu243Asp
ENST00000560656.1:c.503G>C	ENSP00000452610.1:p.Arg168Thr
ENST00000561167.5:c.504G>C	ENSP00000454072.1:p.Glu168Asp
NM_000306.3:c.729G>C	NP_000297.1:p.Glu243Asp
NM_001122757.2:c.807G>C	NP_001116229.1:p.Glu269Asp
NM_000306.4:c.729G>C MANE Select	NP_000297.1:p.Glu243Asp
NM_001122757.3:c.807G>C	NP_001116229.1:p.Glu269Asp