Canonical Allele Identifier: CA353698292

Gene: POU1F1

Linked Data

• ClinVar Variation Id: 2696599
• ClinVar RCV Id: RCV003543064
• MyVariant Identifiers: chr3:g.87309197A>C (hg19) ; chr3:g.87260047A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87260047A>C , CM000665.2:g.87260047A>C	GRCh38
NC_000003.11:g.87309197A>C , CM000665.1:g.87309197A>C	GRCh37
NC_000003.10:g.87391887A>C	NCBI36
NG_008225.2:g.21541T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344265.8:c.801T>G	ENSP00000342931.3:p.Ser267=
ENST00000350375.7:c.723T>G MANE Select	ENSP00000263781.2:p.Ser241=
ENST00000344265.7:c.801T>G	ENSP00000342931.3:p.Ser267=
ENST00000350375.6:c.723T>G	ENSP00000263781.2:p.Ser241=
ENST00000560656.1:c.497T>G	ENSP00000452610.1:p.Leu166Arg
ENST00000561167.5:c.498T>G	ENSP00000454072.1:p.Ser166=
NM_000306.3:c.723T>G	NP_000297.1:p.Ser241=
NM_001122757.2:c.801T>G	NP_001116229.1:p.Ser267=
NM_000306.4:c.723T>G MANE Select	NP_000297.1:p.Ser241=
NM_001122757.3:c.801T>G	NP_001116229.1:p.Ser267=