Canonical Allele Identifier: CA1091094

Gene: POGZ

Linked Data

• dbSNP Id: rs200690343
• ExAC: 1:151378908 C / T
• gnomAD v2: 1-151378908-C-T
• gnomAD v3: 1-151406432-C-T
• gnomAD v4: 1-151406432-C-T
• MyVariant Identifiers: chr1:g.151378908C>T (hg19) ; chr1:g.151406432C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151406432C>T , CM000663.2:g.151406432C>T	GRCh38
NC_000001.10:g.151378908C>T , CM000663.1:g.151378908C>T	GRCh37
NC_000001.9:g.149645532C>T	NCBI36
NG_046601.1:g.58034G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710270.1:c.2651G>A	ENSP00000518163.1:p.Arg884Gln
ENST00000392723.6:c.2444G>A	ENSP00000376484.1:p.Arg815Gln
ENST00000439756.2:c.2603G>A	ENSP00000390156.2:p.Arg868Gln
ENST00000703168.1:c.2624G>A	ENSP00000515214.1:p.Arg875Gln
ENST00000271715.7:c.2603G>A MANE Select	ENSP00000271715.2:p.Arg868Gln
ENST00000271715.6:c.2603G>A	ENSP00000271715.2:p.Arg868Gln
ENST00000358476.7:n.2751G>A
ENST00000368863.6:c.2318G>A	ENSP00000357856.2:p.Arg773Gln
ENST00000392723.5:c.2444G>A	ENSP00000376484.1:p.Arg815Gln
ENST00000409503.5:c.2576G>A	ENSP00000386836.1:p.Arg859Gln
ENST00000491586.5:c.2471G>A	ENSP00000418408.1:p.Arg824Gln
ENST00000529669.1:c.803G>A	ENSP00000432295.1:p.Arg268Gln
ENST00000531094.5:c.2417G>A	ENSP00000431259.1:p.Arg806Gln
NM_001194937.1:c.2576G>A	NP_001181866.1:p.Arg859Gln
NM_001194938.1:c.2417G>A	NP_001181867.1:p.Arg806Gln
NM_015100.3:c.2603G>A	NP_055915.2:p.Arg868Gln
NM_145796.3:c.2318G>A	NP_665739.3:p.Arg773Gln
NM_207171.2:c.2444G>A	NP_997054.1:p.Arg815Gln
XM_005244999.1:c.2603G>A	XP_005245056.1:p.Arg868Gln
XM_005245000.3:c.2603G>A	XP_005245057.1:p.Arg868Gln
XM_005245001.1:c.2603G>A	XP_005245058.1:p.Arg868Gln
XM_005245005.1:c.2444G>A	XP_005245062.1:p.Arg815Gln
XM_005245006.3:c.2444G>A	XP_005245063.1:p.Arg815Gln
XM_011509330.1:c.2495G>A	XP_011507632.1:p.Arg832Gln
XM_011509331.1:c.2246G>A	XP_011507633.1:p.Arg749Gln
XR_921760.1:n.2431G>A
XM_005244999.3:c.2603G>A	XP_005245056.1:p.Arg868Gln
XM_005245000.4:c.2603G>A	XP_005245057.1:p.Arg868Gln
XM_005245001.2:c.2603G>A	XP_005245058.1:p.Arg868Gln
XM_005245005.2:c.2444G>A	XP_005245062.1:p.Arg815Gln
XM_005245006.5:c.2444G>A	XP_005245063.1:p.Arg815Gln
XM_017000744.1:c.2624G>A	XP_016856233.1:p.Arg875Gln
XM_017000745.2:c.2576G>A	XP_016856234.1:p.Arg859Gln
XM_017000746.1:c.2576G>A	XP_016856235.1:p.Arg859Gln
XM_017000748.1:c.2444G>A	XP_016856237.1:p.Arg815Gln
XM_017000749.1:c.2444G>A	XP_016856238.1:p.Arg815Gln
XM_024454305.1:c.2477G>A	XP_024310073.1:p.Arg826Gln
XM_024454306.1:c.1403G>A	XP_024310074.1:p.Arg468Gln
XR_002959801.1:n.2458G>A
NM_015100.4:c.2603G>A MANE Select	NP_055915.2:p.Arg868Gln
NM_001194937.2:c.2576G>A	NP_001181866.1:p.Arg859Gln
NM_001194938.2:c.2417G>A	NP_001181867.1:p.Arg806Gln
NM_145796.4:c.2318G>A	NP_665739.3:p.Arg773Gln