Canonical Allele Identifier: CA2501158

Gene: POU1F1

Linked Data

• dbSNP Id: rs367874840
• ExAC: 3:87311255 T / C
• gnomAD v2: 3-87311255-T-C
• gnomAD v3: 3-87262105-T-C
• gnomAD v4: 3-87262105-T-C
• MyVariant Identifiers: chr3:g.87311255T>C (hg19) ; chr3:g.87262105T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87262105T>C , CM000665.2:g.87262105T>C	GRCh38
NC_000003.11:g.87311255T>C , CM000665.1:g.87311255T>C	GRCh37
NC_000003.10:g.87393945T>C	NCBI36
NG_008225.2:g.19483A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000344265.8:c.648A>G	ENSP00000342931.3:p.Leu216=
ENST00000350375.7:c.570A>G MANE Select	ENSP00000263781.2:p.Leu190=
ENST00000344265.7:c.648A>G	ENSP00000342931.3:p.Leu216=
ENST00000350375.6:c.570A>G	ENSP00000263781.2:p.Leu190=
ENST00000560656.1:c.440-2001A>G	ENSP00000452610.1:n.440-2001A>G
ENST00000561167.5:c.345A>G	ENSP00000454072.1:p.Leu115=
NM_000306.3:c.570A>G	NP_000297.1:p.Leu190=
NM_001122757.2:c.648A>G	NP_001116229.1:p.Leu216=
NM_000306.4:c.570A>G MANE Select	NP_000297.1:p.Leu190=
NM_001122757.3:c.648A>G	NP_001116229.1:p.Leu216=