Canonical Allele Identifier: CA250603
Gene: POU1F1 HGNC NCBI

Linked Data

ClinVar Variation Id: 13603
ClinVar RCV Id: RCV000014573 RCV000591288
dbSNP Id: rs104893755
COSMIC: COSM263051
MyVariant Identifiers: chr3:g.87309109G>A (hg19) chr3:g.87259959G>A (hg38)
PubMed: PMID:1271194 PMID:1472057 PMID:1509262 PMID:7593413 PMID:7833912 PMID:9392392 PMID:9588494 PMID:15928241
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87259959G>A , CM000665.2:g.87259959G>A GRCh38
NC_000003.11:g.87309109G>A , CM000665.1:g.87309109G>A GRCh37
NC_000003.10:g.87391799G>A NCBI36
NG_008225.2:g.21629C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000344265.8:c.889C>T ENSP00000342931.3:p.Arg297Trp
ENST00000350375.7:c.811C>T MANE Select ENSP00000263781.2:p.Arg271Trp
ENST00000344265.7:c.889C>T ENSP00000342931.3:p.Arg297Trp
ENST00000350375.6:c.811C>T ENSP00000263781.2:p.Arg271Trp
ENST00000560656.1:c.585C>T ENSP00000452610.1:n.585C>T
ENST00000561167.5:c.586C>T ENSP00000454072.1:p.Arg196Trp
NM_000306.3:c.811C>T NP_000297.1:p.Arg271Trp
NM_001122757.2:c.889C>T NP_001116229.1:p.Arg297Trp
NM_000306.4:c.811C>T MANE Select NP_000297.1:p.Arg271Trp
NM_001122757.3:c.889C>T NP_001116229.1:p.Arg297Trp
Search 100 bp 5'
Search 100 bp 3'