Canonical Allele Identifier: CA353698181
Gene: POU1F1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87260001C>A , CM000665.2:g.87260001C>A GRCh38
NC_000003.11:g.87309151C>A , CM000665.1:g.87309151C>A GRCh37
NC_000003.10:g.87391841C>A NCBI36
NG_008225.2:g.21587G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000344265.8:c.847G>T ENSP00000342931.3:p.Val283Leu
ENST00000350375.7:c.769G>T MANE Select ENSP00000263781.2:p.Val257Leu
ENST00000344265.7:c.847G>T ENSP00000342931.3:p.Val283Leu
ENST00000350375.6:c.769G>T ENSP00000263781.2:p.Val257Leu
ENST00000560656.1:c.543G>T ENSP00000452610.1:n.543G>T
ENST00000561167.5:c.544G>T ENSP00000454072.1:p.Val182Leu
NM_000306.3:c.769G>T NP_000297.1:p.Val257Leu
NM_001122757.2:c.847G>T NP_001116229.1:p.Val283Leu
NM_000306.4:c.769G>T MANE Select NP_000297.1:p.Val257Leu
NM_001122757.3:c.847G>T NP_001116229.1:p.Val283Leu