Canonical Allele Identifier: CA2501213
Gene: POU1F1 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87264299C>A , CM000665.2:g.87264299C>A GRCh38
NC_000003.11:g.87313449C>A , CM000665.1:g.87313449C>A GRCh37
NC_000003.10:g.87396139C>A NCBI36
NG_008225.2:g.17289G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000344265.8:c.506G>T ENSP00000342931.3:p.Arg169Leu
ENST00000350375.7:c.428G>T MANE Select ENSP00000263781.2:p.Arg143Leu
ENST00000344265.7:c.506G>T ENSP00000342931.3:p.Arg169Leu
ENST00000350375.6:c.428G>T ENSP00000263781.2:p.Arg143Leu
ENST00000560656.1:c.428G>T ENSP00000452610.1:p.Arg143Leu
ENST00000561167.5:c.215-2064G>T ENSP00000454072.1:n.215-2064G>T
NM_000306.3:c.428G>T NP_000297.1:p.Arg143Leu
NM_001122757.2:c.506G>T NP_001116229.1:p.Arg169Leu
NM_000306.4:c.428G>T MANE Select NP_000297.1:p.Arg143Leu
NM_001122757.3:c.506G>T NP_001116229.1:p.Arg169Leu