Canonical Allele Identifier: CA346843

Gene: POGZ

Linked Data

• ClinVar Variation Id: 190308
• ClinVar RCV Id: RCV000170496
• dbSNP Id: rs864321668
• MyVariant Identifiers: chr1:g.151378800A>T (hg19) ; chr1:g.151406324A>T (hg38)
• PubMed: PMID:25533962 ; PMID:26739615 ; PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151406324A>T , CM000663.2:g.151406324A>T	GRCh38
NC_000001.10:g.151378800A>T , CM000663.1:g.151378800A>T	GRCh37
NC_000001.9:g.149645424A>T	NCBI36
NG_046601.1:g.58142T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710270.1:c.2759T>A	ENSP00000518163.1:p.Leu920Ter
ENST00000392723.6:c.2552T>A	ENSP00000376484.1:p.Leu851Ter
ENST00000439756.2:c.2711T>A	ENSP00000390156.2:p.Leu904Ter
ENST00000703168.1:c.2732T>A	ENSP00000515214.1:p.Leu911Ter
ENST00000271715.7:c.2711T>A MANE Select	ENSP00000271715.2:p.Leu904Ter
ENST00000271715.6:c.2711T>A	ENSP00000271715.2:p.Leu904Ter
ENST00000358476.7:n.2859T>A
ENST00000368863.6:c.2426T>A	ENSP00000357856.2:p.Leu809Ter
ENST00000392723.5:c.2552T>A	ENSP00000376484.1:p.Leu851Ter
ENST00000409503.5:c.2684T>A	ENSP00000386836.1:p.Leu895Ter
ENST00000491586.5:c.2579T>A	ENSP00000418408.1:p.Leu860Ter
ENST00000529669.1:c.911T>A	ENSP00000432295.1:p.Leu304Ter
ENST00000531094.5:c.2525T>A	ENSP00000431259.1:p.Leu842Ter
NM_001194937.1:c.2684T>A	NP_001181866.1:p.Leu895Ter
NM_001194938.1:c.2525T>A	NP_001181867.1:p.Leu842Ter
NM_015100.3:c.2711T>A	NP_055915.2:p.Leu904Ter
NM_145796.3:c.2426T>A	NP_665739.3:p.Leu809Ter
NM_207171.2:c.2552T>A	NP_997054.1:p.Leu851Ter
XM_005244999.1:c.2711T>A	XP_005245056.1:p.Leu904Ter
XM_005245000.3:c.2711T>A	XP_005245057.1:p.Leu904Ter
XM_005245001.1:c.2711T>A	XP_005245058.1:p.Leu904Ter
XM_005245005.1:c.2552T>A	XP_005245062.1:p.Leu851Ter
XM_005245006.3:c.2552T>A	XP_005245063.1:p.Leu851Ter
XM_011509330.1:c.2603T>A	XP_011507632.1:p.Leu868Ter
XM_011509331.1:c.2354T>A	XP_011507633.1:p.Leu785Ter
XM_005244999.3:c.2711T>A	XP_005245056.1:p.Leu904Ter
XM_005245000.4:c.2711T>A	XP_005245057.1:p.Leu904Ter
XM_005245001.2:c.2711T>A	XP_005245058.1:p.Leu904Ter
XM_005245005.2:c.2552T>A	XP_005245062.1:p.Leu851Ter
XM_005245006.5:c.2552T>A	XP_005245063.1:p.Leu851Ter
XM_017000744.1:c.2732T>A	XP_016856233.1:p.Leu911Ter
XM_017000745.2:c.2684T>A	XP_016856234.1:p.Leu895Ter
XM_017000746.1:c.2684T>A	XP_016856235.1:p.Leu895Ter
XM_017000748.1:c.2552T>A	XP_016856237.1:p.Leu851Ter
XM_017000749.1:c.2552T>A	XP_016856238.1:p.Leu851Ter
XM_024454305.1:c.2585T>A	XP_024310073.1:p.Leu862Ter
XM_024454306.1:c.1511T>A	XP_024310074.1:p.Leu504Ter
XR_002959801.1:n.2566T>A
NM_015100.4:c.2711T>A MANE Select	NP_055915.2:p.Leu904Ter
NM_001194937.2:c.2684T>A	NP_001181866.1:p.Leu895Ter
NM_001194938.2:c.2525T>A	NP_001181867.1:p.Leu842Ter
NM_145796.4:c.2426T>A	NP_665739.3:p.Leu809Ter