Canonical Allele Identifier: CA353692711

Gene: POU1F1

Linked Data

• dbSNP Id: rs1239011113
• gnomAD v2: 3-87311230-G-C
• gnomAD v3: 3-87262080-G-C
• gnomAD v4: 3-87262080-G-C
• MyVariant Identifiers: chr3:g.87311230G>C (hg19) ; chr3:g.87262080G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87262080G>C , CM000665.2:g.87262080G>C	GRCh38
NC_000003.11:g.87311230G>C , CM000665.1:g.87311230G>C	GRCh37
NC_000003.10:g.87393920G>C	NCBI36
NG_008225.2:g.19508C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344265.8:c.673C>G	ENSP00000342931.3:p.Gln225Glu
ENST00000350375.7:c.595C>G MANE Select	ENSP00000263781.2:p.Gln199Glu
ENST00000344265.7:c.673C>G	ENSP00000342931.3:p.Gln225Glu
ENST00000350375.6:c.595C>G	ENSP00000263781.2:p.Gln199Glu
ENST00000560656.1:c.440-1976C>G	ENSP00000452610.1:n.440-1976C>G
ENST00000561167.5:c.370C>G	ENSP00000454072.1:p.Gln124Glu
NM_000306.3:c.595C>G	NP_000297.1:p.Gln199Glu
NM_001122757.2:c.673C>G	NP_001116229.1:p.Gln225Glu
NM_000306.4:c.595C>G MANE Select	NP_000297.1:p.Gln199Glu
NM_001122757.3:c.673C>G	NP_001116229.1:p.Gln225Glu