Canonical Allele Identifier: CA250616
Gene: POU1F1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.87260055G>A
GRCh37 chr3:g.87309205G>A
Revel Score:
ENST00000350375 (MANE Select) 0.937
ENST00000344265 0.937
gnomAD v4:
chr3-87260055-G-A
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV000014579
ClinVar Variation:
13609
dbSNP:
104893762
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87260055G>A , CM000665.2:g.87260055G>A GRCh38
NC_000003.11:g.87309205G>A , CM000665.1:g.87309205G>A GRCh37
NC_000003.10:g.87391895G>A NCBI36
NG_008225.2:g.21533C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000344265.8:c.793C>T ENSP00000342931.3:p.Pro265Ser
ENST00000350375.7:c.715C>T MANE Select ENSP00000263781.2:p.Pro239Ser
ENST00000344265.7:c.793C>T ENSP00000342931.3:p.Pro265Ser
ENST00000350375.6:c.715C>T ENSP00000263781.2:p.Pro239Ser
ENST00000560656.1:c.489C>T ENSP00000452610.1:p.Asn163=
ENST00000561167.5:c.490C>T ENSP00000454072.1:p.Pro164Ser
NM_000306.3:c.715C>T NP_000297.1:p.Pro239Ser
NM_001122757.2:c.793C>T NP_001116229.1:p.Pro265Ser
NM_000306.4:c.715C>T MANE Select NP_000297.1:p.Pro239Ser
NM_001122757.3:c.793C>T NP_001116229.1:p.Pro265Ser
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