Canonical Allele Identifier: CA353698063

Gene: POU1F1

Linked Data

• dbSNP Id: rs1156511340
• gnomAD v2: 3-87309099-G-T
• gnomAD v4: 3-87259949-G-T
• MyVariant Identifiers: chr3:g.87309099G>T (hg19) ; chr3:g.87259949G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87259949G>T , CM000665.2:g.87259949G>T	GRCh38
NC_000003.11:g.87309099G>T , CM000665.1:g.87309099G>T	GRCh37
NC_000003.10:g.87391789G>T	NCBI36
NG_008225.2:g.21639C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344265.8:c.899C>A	ENSP00000342931.3:p.Thr300Lys
ENST00000350375.7:c.821C>A MANE Select	ENSP00000263781.2:p.Thr274Lys
ENST00000344265.7:c.899C>A	ENSP00000342931.3:p.Thr300Lys
ENST00000350375.6:c.821C>A	ENSP00000263781.2:p.Thr274Lys
ENST00000560656.1:c.595C>A	ENSP00000452610.1:n.595C>A
ENST00000561167.5:c.596C>A	ENSP00000454072.1:p.Thr199Lys
NM_000306.3:c.821C>A	NP_000297.1:p.Thr274Lys
NM_001122757.2:c.899C>A	NP_001116229.1:p.Thr300Lys
NM_000306.4:c.821C>A MANE Select	NP_000297.1:p.Thr274Lys
NM_001122757.3:c.899C>A	NP_001116229.1:p.Thr300Lys