Canonical Allele Identifier: CA527112467

Gene: POU2F1

Linked Data

• dbSNP Id: rs1245297848
• gnomAD v2: 1-167281894-T-A
• gnomAD v3: 1-167312657-T-A
• gnomAD v4: 1-167312657-T-A
• MyVariant Identifiers: chr1:g.167281894T>A (hg19) ; chr1:g.167312657T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.167312657T>A , CM000663.2:g.167312657T>A	GRCh38
NC_000001.10:g.167281894T>A , CM000663.1:g.167281894T>A	GRCh37
NC_000001.9:g.165548518T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000367866.7:c.62-19813T>A MANE Select	ENSP00000356840.2:n.62-19813T>A
ENST00000648671.1:n.326-19813T>A
ENST00000271411.8:c.162+9083T>A	ENSP00000271411.5:n.162+9083T>A
ENST00000367865.5:n.269-19813T>A
ENST00000367866.6:c.62-19813T>A	ENSP00000356840.2:n.62-19813T>A
ENST00000429375.6:c.62-19813T>A	ENSP00000401217.2:n.62-19813T>A
ENST00000442313.5:c.163-6357T>A	ENSP00000404571.2:n.163-6357T>A
ENST00000492850.5:n.269-19813T>A
ENST00000541643.7:c.-9+9083T>A	ENSP00000441285.2:n.-9+9083T>A
ENST00000557909.5:n.172-19813T>A
ENST00000559038.5:n.388+9083T>A
ENST00000560232.6:c.162+9083T>A	ENSP00000453094.2:n.162+9083T>A
NM_001198786.1:c.62-19813T>A	NP_001185715.1:n.62-19813T>A
NM_002697.3:c.62-19813T>A	NP_002688.3:n.62-19813T>A
NR_037163.1:n.174+9083T>A
XM_011509653.1:c.70+9175T>A	XP_011507955.1:n.70+9175T>A
XM_011509655.1:c.70+9175T>A	XP_011507957.1:n.70+9175T>A
NM_001365848.1:c.-303-19813T>A	NP_001352777.1:n.-303-19813T>A
NM_001365849.1:c.-303-19813T>A	NP_001352778.1:n.-303-19813T>A
XM_011509653.2:c.70+9175T>A	XP_011507955.1:n.70+9175T>A
XM_011509654.3:c.-51-6357T>A	XP_011507956.1:n.-51-6357T>A
XM_017001508.2:c.70+9175T>A	XP_016856997.1:n.70+9175T>A
XM_024447727.1:c.-8-19813T>A	XP_024303495.1:n.-8-19813T>A
NM_002697.4:c.62-19813T>A MANE Select	NP_002688.3:n.62-19813T>A
NM_001198786.2:c.62-19813T>A	NP_001185715.1:n.62-19813T>A
NR_037163.2:n.174+9083T>A