Canonical Allele Identifier: CA1091087

Gene: POGZ

Linked Data

• ClinVar Variation Id: 2283148
• ClinVar RCV Id: RCV002840582
• dbSNP Id: rs768449375
• ExAC: 1:151378863 T / C
• gnomAD v2: 1-151378863-T-C
• gnomAD v4: 1-151406387-T-C
• MyVariant Identifiers: chr1:g.151378863T>C (hg19) ; chr1:g.151406387T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151406387T>C , CM000663.2:g.151406387T>C	GRCh38
NC_000001.10:g.151378863T>C , CM000663.1:g.151378863T>C	GRCh37
NC_000001.9:g.149645487T>C	NCBI36
NG_046601.1:g.58079A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710270.1:c.2696A>G	ENSP00000518163.1:p.Lys899Arg
ENST00000392723.6:c.2489A>G	ENSP00000376484.1:p.Lys830Arg
ENST00000439756.2:c.2648A>G	ENSP00000390156.2:p.Lys883Arg
ENST00000703168.1:c.2669A>G	ENSP00000515214.1:p.Lys890Arg
ENST00000271715.7:c.2648A>G MANE Select	ENSP00000271715.2:p.Lys883Arg
ENST00000271715.6:c.2648A>G	ENSP00000271715.2:p.Lys883Arg
ENST00000358476.7:n.2796A>G
ENST00000368863.6:c.2363A>G	ENSP00000357856.2:p.Lys788Arg
ENST00000392723.5:c.2489A>G	ENSP00000376484.1:p.Lys830Arg
ENST00000409503.5:c.2621A>G	ENSP00000386836.1:p.Lys874Arg
ENST00000491586.5:c.2516A>G	ENSP00000418408.1:p.Lys839Arg
ENST00000529669.1:c.848A>G	ENSP00000432295.1:p.Lys283Arg
ENST00000531094.5:c.2462A>G	ENSP00000431259.1:p.Lys821Arg
NM_001194937.1:c.2621A>G	NP_001181866.1:p.Lys874Arg
NM_001194938.1:c.2462A>G	NP_001181867.1:p.Lys821Arg
NM_015100.3:c.2648A>G	NP_055915.2:p.Lys883Arg
NM_145796.3:c.2363A>G	NP_665739.3:p.Lys788Arg
NM_207171.2:c.2489A>G	NP_997054.1:p.Lys830Arg
XM_005244999.1:c.2648A>G	XP_005245056.1:p.Lys883Arg
XM_005245000.3:c.2648A>G	XP_005245057.1:p.Lys883Arg
XM_005245001.1:c.2648A>G	XP_005245058.1:p.Lys883Arg
XM_005245005.1:c.2489A>G	XP_005245062.1:p.Lys830Arg
XM_005245006.3:c.2489A>G	XP_005245063.1:p.Lys830Arg
XM_011509330.1:c.2540A>G	XP_011507632.1:p.Lys847Arg
XM_011509331.1:c.2291A>G	XP_011507633.1:p.Lys764Arg
XM_005244999.3:c.2648A>G	XP_005245056.1:p.Lys883Arg
XM_005245000.4:c.2648A>G	XP_005245057.1:p.Lys883Arg
XM_005245001.2:c.2648A>G	XP_005245058.1:p.Lys883Arg
XM_005245005.2:c.2489A>G	XP_005245062.1:p.Lys830Arg
XM_005245006.5:c.2489A>G	XP_005245063.1:p.Lys830Arg
XM_017000744.1:c.2669A>G	XP_016856233.1:p.Lys890Arg
XM_017000745.2:c.2621A>G	XP_016856234.1:p.Lys874Arg
XM_017000746.1:c.2621A>G	XP_016856235.1:p.Lys874Arg
XM_017000748.1:c.2489A>G	XP_016856237.1:p.Lys830Arg
XM_017000749.1:c.2489A>G	XP_016856238.1:p.Lys830Arg
XM_024454305.1:c.2522A>G	XP_024310073.1:p.Lys841Arg
XM_024454306.1:c.1448A>G	XP_024310074.1:p.Lys483Arg
XR_002959801.1:n.2503A>G
NM_015100.4:c.2648A>G MANE Select	NP_055915.2:p.Lys883Arg
NM_001194937.2:c.2621A>G	NP_001181866.1:p.Lys874Arg
NM_001194938.2:c.2462A>G	NP_001181867.1:p.Lys821Arg
NM_145796.4:c.2363A>G	NP_665739.3:p.Lys788Arg