Canonical Allele Identifier: CA353692851

Gene: POU1F1

Linked Data

• gnomAD v4: 3-87262143-G-A
• MyVariant Identifiers: chr3:g.87311293G>A (hg19) ; chr3:g.87262143G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87262143G>A , CM000665.2:g.87262143G>A	GRCh38
NC_000003.11:g.87311293G>A , CM000665.1:g.87311293G>A	GRCh37
NC_000003.10:g.87393983G>A	NCBI36
NG_008225.2:g.19445C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344265.8:c.610C>T	ENSP00000342931.3:p.Leu204Phe
ENST00000350375.7:c.532C>T MANE Select	ENSP00000263781.2:p.Leu178Phe
ENST00000344265.7:c.610C>T	ENSP00000342931.3:p.Leu204Phe
ENST00000350375.6:c.532C>T	ENSP00000263781.2:p.Leu178Phe
ENST00000560656.1:c.440-2039C>T	ENSP00000452610.1:n.440-2039C>T
ENST00000561167.5:c.307C>T	ENSP00000454072.1:p.Leu103Phe
NM_000306.3:c.532C>T	NP_000297.1:p.Leu178Phe
NM_001122757.2:c.610C>T	NP_001116229.1:p.Leu204Phe
NM_000306.4:c.532C>T MANE Select	NP_000297.1:p.Leu178Phe
NM_001122757.3:c.610C>T	NP_001116229.1:p.Leu204Phe