Canonical Allele Identifier: CA341982754

Gene: POGZ

Linked Data

• gnomAD v4: 1-151430827-C-A
• MyVariant Identifiers: chr1:g.151403303C>A (hg19) ; chr1:g.151430827C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151430827C>A , CM000663.2:g.151430827C>A	GRCh38
NC_000001.10:g.151403303C>A , CM000663.1:g.151403303C>A	GRCh37
NC_000001.9:g.149669927C>A	NCBI36
NG_046601.1:g.33639G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710270.1:c.346G>T	ENSP00000518163.1:p.Val116Phe
ENST00000392723.6:c.139G>T	ENSP00000376484.1:p.Val47Phe
ENST00000439756.2:c.298G>T	ENSP00000390156.2:p.Val100Phe
ENST00000703168.1:c.319G>T	ENSP00000515214.1:p.Val107Phe
ENST00000703169.1:c.298G>T	ENSP00000515215.1:p.Val100Phe
ENST00000271715.7:c.298G>T MANE Select	ENSP00000271715.2:p.Val100Phe
ENST00000271715.6:c.298G>T	ENSP00000271715.2:p.Val100Phe
ENST00000358476.7:n.167G>T
ENST00000368863.6:c.284-2414G>T	ENSP00000357856.2:n.284-2414G>T
ENST00000392723.5:c.139G>T	ENSP00000376484.1:p.Val47Phe
ENST00000409503.5:c.298G>T	ENSP00000386836.1:p.Val100Phe
ENST00000450842.1:c.139G>T	ENSP00000395332.1:p.Val47Phe
ENST00000467287.5:n.176G>T
ENST00000485040.5:n.327G>T
ENST00000491586.5:c.139G>T	ENSP00000418408.1:p.Val47Phe
ENST00000531094.5:c.139G>T	ENSP00000431259.1:p.Val47Phe
ENST00000533351.5:c.298G>T	ENSP00000433637.1:p.Val100Phe
ENST00000533461.5:c.298G>T	ENSP00000433934.1:p.Val100Phe
NM_001194937.1:c.298G>T	NP_001181866.1:p.Val100Phe
NM_001194938.1:c.139G>T	NP_001181867.1:p.Val47Phe
NM_015100.3:c.298G>T	NP_055915.2:p.Val100Phe
NM_145796.3:c.284-2414G>T	NP_665739.3:n.284-2414G>T
NM_207171.2:c.139G>T	NP_997054.1:p.Val47Phe
XM_005244999.1:c.298G>T	XP_005245056.1:p.Val100Phe
XM_005245000.3:c.298G>T	XP_005245057.1:p.Val100Phe
XM_005245001.1:c.298G>T	XP_005245058.1:p.Val100Phe
XM_005245005.1:c.139G>T	XP_005245062.1:p.Val47Phe
XM_005245006.3:c.139G>T	XP_005245063.1:p.Val47Phe
XM_011509330.1:c.190G>T	XP_011507632.1:p.Val64Phe
XM_011509331.1:c.-60G>T	XP_011507633.1:n.-60G>T
XR_921760.1:n.299G>T
XM_005244999.3:c.298G>T	XP_005245056.1:p.Val100Phe
XM_005245000.4:c.298G>T	XP_005245057.1:p.Val100Phe
XM_005245001.2:c.298G>T	XP_005245058.1:p.Val100Phe
XM_005245005.2:c.139G>T	XP_005245062.1:p.Val47Phe
XM_005245006.5:c.139G>T	XP_005245063.1:p.Val47Phe
XM_017000744.1:c.319G>T	XP_016856233.1:p.Val107Phe
XM_017000745.2:c.298G>T	XP_016856234.1:p.Val100Phe
XM_017000746.1:c.298G>T	XP_016856235.1:p.Val100Phe
XM_017000748.1:c.139G>T	XP_016856237.1:p.Val47Phe
XM_017000749.1:c.139G>T	XP_016856238.1:p.Val47Phe
XM_024454305.1:c.319G>T	XP_024310073.1:p.Val107Phe
XM_024454306.1:c.-1985G>T	XP_024310074.1:n.-1985G>T
XR_002959801.1:n.326G>T
NM_015100.4:c.298G>T MANE Select	NP_055915.2:p.Val100Phe
NM_001194937.2:c.298G>T	NP_001181866.1:p.Val100Phe
NM_001194938.2:c.139G>T	NP_001181867.1:p.Val47Phe
NM_145796.4:c.284-2414G>T	NP_665739.3:n.284-2414G>T