Canonical Allele Identifier: CA2501079

Gene: POU1F1

Linked Data

• dbSNP Id: rs746947103
• ExAC: 3:87309145 T / C
• gnomAD v2: 3-87309145-T-C
• gnomAD v4: 3-87259995-T-C
• MyVariant Identifiers: chr3:g.87309145T>C (hg19) ; chr3:g.87259995T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87259995T>C , CM000665.2:g.87259995T>C	GRCh38
NC_000003.11:g.87309145T>C , CM000665.1:g.87309145T>C	GRCh37
NC_000003.10:g.87391835T>C	NCBI36
NG_008225.2:g.21593A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344265.8:c.853A>G	ENSP00000342931.3:p.Arg285Gly
ENST00000350375.7:c.775A>G MANE Select	ENSP00000263781.2:p.Arg259Gly
ENST00000344265.7:c.853A>G	ENSP00000342931.3:p.Arg285Gly
ENST00000350375.6:c.775A>G	ENSP00000263781.2:p.Arg259Gly
ENST00000560656.1:c.549A>G	ENSP00000452610.1:n.549A>G
ENST00000561167.5:c.550A>G	ENSP00000454072.1:p.Arg184Gly
NM_000306.3:c.775A>G	NP_000297.1:p.Arg259Gly
NM_001122757.2:c.853A>G	NP_001116229.1:p.Arg285Gly
NM_000306.4:c.775A>G MANE Select	NP_000297.1:p.Arg259Gly
NM_001122757.3:c.853A>G	NP_001116229.1:p.Arg285Gly