Canonical Allele Identifier: CA2501237

Gene: POU1F1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87264475G>A , CM000665.2:g.87264475G>A	GRCh38
NC_000003.11:g.87313625G>A , CM000665.1:g.87313625G>A	GRCh37
NC_000003.10:g.87396315G>A	NCBI36
NG_008225.2:g.17113C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000306.4:c.252C>T MANE Select	NP_000297.1:p.His84=
ENST00000350375.7:c.252C>T MANE Select	ENSP00000263781.2:p.His84=
NM_000306.3:c.252C>T	NP_000297.1:p.His84=
NM_001122757.2:c.330C>T	NP_001116229.1:p.His110=
NM_001122757.3:c.330C>T	NP_001116229.1:p.His110=
ENST00000344265.7:c.330C>T	ENSP00000342931.3:p.His110=
ENST00000344265.8:c.330C>T	ENSP00000342931.3:p.His110=
ENST00000350375.6:c.252C>T	ENSP00000263781.2:p.His84=
ENST00000560656.1:c.252C>T	ENSP00000452610.1:p.His84=
ENST00000561167.5:c.215-2240C>T	ENSP00000454072.1:n.215-2240C>T