Canonical Allele Identifier: CA2501085

Gene: POU1F1

Linked Data

• dbSNP Id: rs762314553
• ExAC: 3:87309167 C / A
• gnomAD v2: 3-87309167-C-A
• gnomAD v4: 3-87260017-C-A
• MyVariant Identifiers: chr3:g.87309167C>A (hg19) ; chr3:g.87260017C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87260017C>A , CM000665.2:g.87260017C>A	GRCh38
NC_000003.11:g.87309167C>A , CM000665.1:g.87309167C>A	GRCh37
NC_000003.10:g.87391857C>A	NCBI36
NG_008225.2:g.21571G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344265.8:c.831G>T	ENSP00000342931.3:p.Leu277=
ENST00000350375.7:c.753G>T MANE Select	ENSP00000263781.2:p.Leu251=
ENST00000344265.7:c.831G>T	ENSP00000342931.3:p.Leu277=
ENST00000350375.6:c.753G>T	ENSP00000263781.2:p.Leu251=
ENST00000560656.1:c.527G>T	ENSP00000452610.1:n.527G>T
ENST00000561167.5:c.528G>T	ENSP00000454072.1:p.Leu176=
NM_000306.3:c.753G>T	NP_000297.1:p.Leu251=
NM_001122757.2:c.831G>T	NP_001116229.1:p.Leu277=
NM_000306.4:c.753G>T MANE Select	NP_000297.1:p.Leu251=
NM_001122757.3:c.831G>T	NP_001116229.1:p.Leu277=