Canonical Allele Identifier: CA2647922375

Gene: POGZ

Linked Data

• gnomAD v4: 1-151424874-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151424874G>A , CM000663.2:g.151424874G>A	GRCh38
NC_000001.10:g.151397350G>A , CM000663.1:g.151397350G>A	GRCh37
NC_000001.9:g.149663974G>A	NCBI36
NG_046601.1:g.39592C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710270.1:c.1233+81C>T	ENSP00000518163.1:n.1233+81C>T
ENST00000392723.6:c.1026+81C>T	ENSP00000376484.1:n.1026+81C>T
ENST00000439756.2:c.1185+81C>T	ENSP00000390156.2:n.1185+81C>T
ENST00000703168.1:c.1206+81C>T	ENSP00000515214.1:n.1206+81C>T
ENST00000703169.1:c.1158+81C>T	ENSP00000515215.1:n.1158+81C>T
ENST00000271715.7:c.1185+81C>T MANE Select	ENSP00000271715.2:n.1185+81C>T
ENST00000271715.6:c.1185+81C>T	ENSP00000271715.2:n.1185+81C>T
ENST00000358476.7:n.1054+81C>T
ENST00000368863.6:c.900+81C>T	ENSP00000357856.2:n.900+81C>T
ENST00000392723.5:c.1026+81C>T	ENSP00000376484.1:n.1026+81C>T
ENST00000409503.5:c.1158+81C>T	ENSP00000386836.1:n.1158+81C>T
ENST00000441516.1:c.159-588C>T
ENST00000491586.5:c.1026+81C>T	ENSP00000418408.1:n.1026+81C>T
ENST00000495253.1:n.340+81C>T
ENST00000531094.5:c.999+81C>T	ENSP00000431259.1:n.999+81C>T
NM_001194937.1:c.1158+81C>T	NP_001181866.1:n.1158+81C>T
NM_001194938.1:c.999+81C>T	NP_001181867.1:n.999+81C>T
NM_015100.3:c.1185+81C>T	NP_055915.2:n.1185+81C>T
NM_145796.3:c.900+81C>T	NP_665739.3:n.900+81C>T
NM_207171.2:c.1026+81C>T	NP_997054.1:n.1026+81C>T
XM_005244999.1:c.1185+81C>T	XP_005245056.1:n.1185+81C>T
XM_005245000.3:c.1185+81C>T	XP_005245057.1:n.1185+81C>T
XM_005245001.1:c.1185+81C>T	XP_005245058.1:n.1185+81C>T
XM_005245005.1:c.1026+81C>T	XP_005245062.1:n.1026+81C>T
XM_005245006.3:c.1026+81C>T	XP_005245063.1:n.1026+81C>T
XM_011509330.1:c.1077+81C>T	XP_011507632.1:n.1077+81C>T
XM_011509331.1:c.828+81C>T	XP_011507633.1:n.828+81C>T
XR_921760.1:n.1186+81C>T
XM_005244999.3:c.1185+81C>T	XP_005245056.1:n.1185+81C>T
XM_005245000.4:c.1185+81C>T	XP_005245057.1:n.1185+81C>T
XM_005245001.2:c.1185+81C>T	XP_005245058.1:n.1185+81C>T
XM_005245005.2:c.1026+81C>T	XP_005245062.1:n.1026+81C>T
XM_005245006.5:c.1026+81C>T	XP_005245063.1:n.1026+81C>T
XM_017000744.1:c.1206+81C>T	XP_016856233.1:n.1206+81C>T
XM_017000745.2:c.1158+81C>T	XP_016856234.1:n.1158+81C>T
XM_017000746.1:c.1158+81C>T	XP_016856235.1:n.1158+81C>T
XM_017000748.1:c.1026+81C>T	XP_016856237.1:n.1026+81C>T
XM_017000749.1:c.1026+81C>T	XP_016856238.1:n.1026+81C>T
XM_024454305.1:c.1206+81C>T	XP_024310073.1:n.1206+81C>T
XM_024454306.1:c.-15-588C>T	XP_024310074.1:n.-15-588C>T
XR_002959801.1:n.1213+81C>T
NM_015100.4:c.1185+81C>T MANE Select	NP_055915.2:n.1185+81C>T
NM_001194937.2:c.1158+81C>T	NP_001181866.1:n.1158+81C>T
NM_001194938.2:c.999+81C>T	NP_001181867.1:n.999+81C>T
NM_145796.4:c.900+81C>T	NP_665739.3:n.900+81C>T