Canonical Allele Identifier: CA434626976
Gene: POU1F1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.87313441A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87264291A>G , CM000665.2:g.87264291A>G GRCh38
NC_000003.11:g.87313441A>G , CM000665.1:g.87313441A>G GRCh37
NC_000003.10:g.87396131A>G NCBI36
NG_008225.2:g.17297T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000344265.8:c.514T>C ENSP00000342931.3:p.Leu172=
ENST00000350375.7:c.436T>C MANE Select ENSP00000263781.2:p.Leu146=
ENST00000344265.7:c.514T>C ENSP00000342931.3:p.Leu172=
ENST00000350375.6:c.436T>C ENSP00000263781.2:p.Leu146=
ENST00000560656.1:c.436T>C ENSP00000452610.1:p.Leu146=
ENST00000561167.5:c.215-2056T>C ENSP00000454072.1:n.215-2056T>C
NM_000306.3:c.436T>C NP_000297.1:p.Leu146=
NM_001122757.2:c.514T>C NP_001116229.1:p.Leu172=
NM_000306.4:c.436T>C MANE Select NP_000297.1:p.Leu146=
NM_001122757.3:c.514T>C NP_001116229.1:p.Leu172=