Canonical Allele Identifier: CA353698122
Gene: POU1F1 HGNC NCBI

Linked Data

gnomAD v4: 3-87259974-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87259974T>C , CM000665.2:g.87259974T>C GRCh38
NC_000003.11:g.87309124T>C , CM000665.1:g.87309124T>C GRCh37
NC_000003.10:g.87391814T>C NCBI36
NG_008225.2:g.21614A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000344265.8:c.874A>G ENSP00000342931.3:p.Arg292Gly
ENST00000350375.7:c.796A>G MANE Select ENSP00000263781.2:p.Arg266Gly
ENST00000344265.7:c.874A>G ENSP00000342931.3:p.Arg292Gly
ENST00000350375.6:c.796A>G ENSP00000263781.2:p.Arg266Gly
ENST00000560656.1:c.570A>G ENSP00000452610.1:n.570A>G
ENST00000561167.5:c.571A>G ENSP00000454072.1:p.Arg191Gly
NM_000306.3:c.796A>G NP_000297.1:p.Arg266Gly
NM_001122757.2:c.874A>G NP_001116229.1:p.Arg292Gly
NM_000306.4:c.796A>G MANE Select NP_000297.1:p.Arg266Gly
NM_001122757.3:c.874A>G NP_001116229.1:p.Arg292Gly