Canonical Allele Identifier: CA353693829
Gene: POU1F1 HGNC NCBI

Linked Data

gnomAD v4: 3-87264366-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87264366G>A , CM000665.2:g.87264366G>A GRCh38
NC_000003.11:g.87313516G>A , CM000665.1:g.87313516G>A GRCh37
NC_000003.10:g.87396206G>A NCBI36
NG_008225.2:g.17222C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000344265.8:c.439C>T ENSP00000342931.3:p.Pro147Ser
ENST00000350375.7:c.361C>T MANE Select ENSP00000263781.2:p.Pro121Ser
ENST00000344265.7:c.439C>T ENSP00000342931.3:p.Pro147Ser
ENST00000350375.6:c.361C>T ENSP00000263781.2:p.Pro121Ser
ENST00000560656.1:c.361C>T ENSP00000452610.1:p.Pro121Ser
ENST00000561167.5:c.215-2131C>T ENSP00000454072.1:n.215-2131C>T
NM_000306.3:c.361C>T NP_000297.1:p.Pro121Ser
NM_001122757.2:c.439C>T NP_001116229.1:p.Pro147Ser
NM_000306.4:c.361C>T MANE Select NP_000297.1:p.Pro121Ser
NM_001122757.3:c.439C>T NP_001116229.1:p.Pro147Ser