Canonical Allele Identifier: CA353692693

Gene: POU1F1

Linked Data

• gnomAD v4: 3-87262071-C-T
• MyVariant Identifiers: chr3:g.87311221C>T (hg19) ; chr3:g.87262071C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87262071C>T , CM000665.2:g.87262071C>T	GRCh38
NC_000003.11:g.87311221C>T , CM000665.1:g.87311221C>T	GRCh37
NC_000003.10:g.87393911C>T	NCBI36
NG_008225.2:g.19517G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344265.8:c.682G>A	ENSP00000342931.3:p.Ala228Thr
ENST00000350375.7:c.604G>A MANE Select	ENSP00000263781.2:p.Ala202Thr
ENST00000344265.7:c.682G>A	ENSP00000342931.3:p.Ala228Thr
ENST00000350375.6:c.604G>A	ENSP00000263781.2:p.Ala202Thr
ENST00000560656.1:c.440-1967G>A	ENSP00000452610.1:n.440-1967G>A
ENST00000561167.5:c.379G>A	ENSP00000454072.1:p.Ala127Thr
NM_000306.3:c.604G>A	NP_000297.1:p.Ala202Thr
NM_001122757.2:c.682G>A	NP_001116229.1:p.Ala228Thr
NM_000306.4:c.604G>A MANE Select	NP_000297.1:p.Ala202Thr
NM_001122757.3:c.682G>A	NP_001116229.1:p.Ala228Thr