Canonical Allele Identifier: CA434575685
Gene: POU1F1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.87311257A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87262107A>G , CM000665.2:g.87262107A>G GRCh38
NC_000003.11:g.87311257A>G , CM000665.1:g.87311257A>G GRCh37
NC_000003.10:g.87393947A>G NCBI36
NG_008225.2:g.19481T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000344265.8:c.646T>C ENSP00000342931.3:p.Leu216=
ENST00000350375.7:c.568T>C MANE Select ENSP00000263781.2:p.Leu190=
ENST00000344265.7:c.646T>C ENSP00000342931.3:p.Leu216=
ENST00000350375.6:c.568T>C ENSP00000263781.2:p.Leu190=
ENST00000560656.1:c.440-2003T>C ENSP00000452610.1:n.440-2003T>C
ENST00000561167.5:c.343T>C ENSP00000454072.1:p.Leu115=
NM_000306.3:c.568T>C NP_000297.1:p.Leu190=
NM_001122757.2:c.646T>C NP_001116229.1:p.Leu216=
NM_000306.4:c.568T>C MANE Select NP_000297.1:p.Leu190=
NM_001122757.3:c.646T>C NP_001116229.1:p.Leu216=