Canonical Allele Identifier: CA353601

Gene: POGZ

Linked Data

• ClinVar Variation Id: 224724
• ClinVar RCV Id: RCV000210296 ; RCV000487152
• dbSNP Id: rs869312833
• MyVariant Identifiers: chr1:g.151378510G>A (hg19) ; chr1:g.151406034G>A (hg38)
• PubMed: PMID:26942287 ; PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151406034G>A , CM000663.2:g.151406034G>A	GRCh38
NC_000001.10:g.151378510G>A , CM000663.1:g.151378510G>A	GRCh37
NC_000001.9:g.149645134G>A	NCBI36
NG_046601.1:g.58432C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710270.1:c.3049C>T	ENSP00000518163.1:p.Arg1017Ter
ENST00000392723.6:c.2842C>T	ENSP00000376484.1:p.Arg948Ter
ENST00000439756.2:c.3001C>T	ENSP00000390156.2:p.Arg1001Ter
ENST00000703168.1:c.3022C>T	ENSP00000515214.1:p.Arg1008Ter
ENST00000271715.7:c.3001C>T MANE Select	ENSP00000271715.2:p.Arg1001Ter
ENST00000271715.6:c.3001C>T	ENSP00000271715.2:p.Arg1001Ter
ENST00000358476.7:n.3149C>T
ENST00000368863.6:c.2716C>T	ENSP00000357856.2:p.Arg906Ter
ENST00000392723.5:c.2842C>T	ENSP00000376484.1:p.Arg948Ter
ENST00000409503.5:c.2974C>T	ENSP00000386836.1:p.Arg992Ter
ENST00000491586.5:c.2869C>T	ENSP00000418408.1:p.Arg957Ter
ENST00000531094.5:c.2815C>T	ENSP00000431259.1:p.Arg939Ter
NM_001194937.1:c.2974C>T	NP_001181866.1:p.Arg992Ter
NM_001194938.1:c.2815C>T	NP_001181867.1:p.Arg939Ter
NM_015100.3:c.3001C>T	NP_055915.2:p.Arg1001Ter
NM_145796.3:c.2716C>T	NP_665739.3:p.Arg906Ter
NM_207171.2:c.2842C>T	NP_997054.1:p.Arg948Ter
XM_005244999.1:c.3001C>T	XP_005245056.1:p.Arg1001Ter
XM_005245000.3:c.3001C>T	XP_005245057.1:p.Arg1001Ter
XM_005245001.1:c.3001C>T	XP_005245058.1:p.Arg1001Ter
XM_005245005.1:c.2842C>T	XP_005245062.1:p.Arg948Ter
XM_005245006.3:c.2842C>T	XP_005245063.1:p.Arg948Ter
XM_011509330.1:c.2893C>T	XP_011507632.1:p.Arg965Ter
XM_011509331.1:c.2644C>T	XP_011507633.1:p.Arg882Ter
XM_005244999.3:c.3001C>T	XP_005245056.1:p.Arg1001Ter
XM_005245000.4:c.3001C>T	XP_005245057.1:p.Arg1001Ter
XM_005245001.2:c.3001C>T	XP_005245058.1:p.Arg1001Ter
XM_005245005.2:c.2842C>T	XP_005245062.1:p.Arg948Ter
XM_005245006.5:c.2842C>T	XP_005245063.1:p.Arg948Ter
XM_017000744.1:c.3022C>T	XP_016856233.1:p.Arg1008Ter
XM_017000745.2:c.2974C>T	XP_016856234.1:p.Arg992Ter
XM_017000746.1:c.2974C>T	XP_016856235.1:p.Arg992Ter
XM_017000748.1:c.2842C>T	XP_016856237.1:p.Arg948Ter
XM_017000749.1:c.2842C>T	XP_016856238.1:p.Arg948Ter
XM_024454305.1:c.2875C>T	XP_024310073.1:p.Arg959Ter
XM_024454306.1:c.1801C>T	XP_024310074.1:p.Arg601Ter
XR_002959801.1:n.2856C>T
NM_015100.4:c.3001C>T MANE Select	NP_055915.2:p.Arg1001Ter
NM_001194937.2:c.2974C>T	NP_001181866.1:p.Arg992Ter
NM_001194938.2:c.2815C>T	NP_001181867.1:p.Arg939Ter
NM_145796.4:c.2716C>T	NP_665739.3:p.Arg906Ter