Canonical Allele Identifier: CA353698243
Gene: POU1F1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87260029C>G , CM000665.2:g.87260029C>G GRCh38
NC_000003.11:g.87309179C>G , CM000665.1:g.87309179C>G GRCh37
NC_000003.10:g.87391869C>G NCBI36
NG_008225.2:g.21559G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000344265.8:c.819G>C ENSP00000342931.3:p.Met273Ile
ENST00000350375.7:c.741G>C MANE Select ENSP00000263781.2:p.Met247Ile
ENST00000344265.7:c.819G>C ENSP00000342931.3:p.Met273Ile
ENST00000350375.6:c.741G>C ENSP00000263781.2:p.Met247Ile
ENST00000560656.1:c.515G>C ENSP00000452610.1:n.515G>C
ENST00000561167.5:c.516G>C ENSP00000454072.1:p.Met172Ile
NM_000306.3:c.741G>C NP_000297.1:p.Met247Ile
NM_001122757.2:c.819G>C NP_001116229.1:p.Met273Ile
NM_000306.4:c.741G>C MANE Select NP_000297.1:p.Met247Ile
NM_001122757.3:c.819G>C NP_001116229.1:p.Met273Ile