Canonical Allele Identifier: CA353692760

Gene: POU1F1

Linked Data

• gnomAD v3: 3-87262101-T-C
• gnomAD v4: 3-87262101-T-C
• MyVariant Identifiers: chr3:g.87311251T>C (hg19) ; chr3:g.87262101T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87262101T>C , CM000665.2:g.87262101T>C	GRCh38
NC_000003.11:g.87311251T>C , CM000665.1:g.87311251T>C	GRCh37
NC_000003.10:g.87393941T>C	NCBI36
NG_008225.2:g.19487A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000344265.8:c.652A>G	ENSP00000342931.3:p.Lys218Glu
ENST00000350375.7:c.574A>G MANE Select	ENSP00000263781.2:p.Lys192Glu
ENST00000344265.7:c.652A>G	ENSP00000342931.3:p.Lys218Glu
ENST00000350375.6:c.574A>G	ENSP00000263781.2:p.Lys192Glu
ENST00000560656.1:c.440-1997A>G	ENSP00000452610.1:n.440-1997A>G
ENST00000561167.5:c.349A>G	ENSP00000454072.1:p.Lys117Glu
NM_000306.3:c.574A>G	NP_000297.1:p.Lys192Glu
NM_001122757.2:c.652A>G	NP_001116229.1:p.Lys218Glu
NM_000306.4:c.574A>G MANE Select	NP_000297.1:p.Lys192Glu
NM_001122757.3:c.652A>G	NP_001116229.1:p.Lys218Glu