Canonical Allele Identifier: CA353698235
Gene: POU1F1 HGNC NCBI

Linked Data

dbSNP Id: rs1706478046
gnomAD v4: 3-87260027-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87260027G>A , CM000665.2:g.87260027G>A GRCh38
NC_000003.11:g.87309177G>A , CM000665.1:g.87309177G>A GRCh37
NC_000003.10:g.87391867G>A NCBI36
NG_008225.2:g.21561C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000344265.8:c.821C>T ENSP00000342931.3:p.Ala274Val
ENST00000350375.7:c.743C>T MANE Select ENSP00000263781.2:p.Ala248Val
ENST00000344265.7:c.821C>T ENSP00000342931.3:p.Ala274Val
ENST00000350375.6:c.743C>T ENSP00000263781.2:p.Ala248Val
ENST00000560656.1:c.517C>T ENSP00000452610.1:n.517C>T
ENST00000561167.5:c.518C>T ENSP00000454072.1:p.Ala173Val
NM_000306.3:c.743C>T NP_000297.1:p.Ala248Val
NM_001122757.2:c.821C>T NP_001116229.1:p.Ala274Val
NM_000306.4:c.743C>T MANE Select NP_000297.1:p.Ala248Val
NM_001122757.3:c.821C>T NP_001116229.1:p.Ala274Val