Canonical Allele Identifier: CA353692693
Gene: POU1F1 HGNC NCBI

Linked Data

gnomAD v4: 3-87262071-C-T

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