Canonical Allele Identifier: CA1091092

Gene: POGZ

Linked Data

• dbSNP Id: rs568207666
• ExAC: 1:151378905 T / C
• gnomAD v2: 1-151378905-T-C
• gnomAD v3: 1-151406429-T-C
• gnomAD v4: 1-151406429-T-C
• MyVariant Identifiers: chr1:g.151378905T>C (hg19) ; chr1:g.151406429T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151406429T>C , CM000663.2:g.151406429T>C	GRCh38
NC_000001.10:g.151378905T>C , CM000663.1:g.151378905T>C	GRCh37
NC_000001.9:g.149645529T>C	NCBI36
NG_046601.1:g.58037A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710270.1:c.2654A>G	ENSP00000518163.1:p.Asn885Ser
ENST00000392723.6:c.2447A>G	ENSP00000376484.1:p.Asn816Ser
ENST00000439756.2:c.2606A>G	ENSP00000390156.2:p.Asn869Ser
ENST00000703168.1:c.2627A>G	ENSP00000515214.1:p.Asn876Ser
ENST00000271715.7:c.2606A>G MANE Select	ENSP00000271715.2:p.Asn869Ser
ENST00000271715.6:c.2606A>G	ENSP00000271715.2:p.Asn869Ser
ENST00000358476.7:n.2754A>G
ENST00000368863.6:c.2321A>G	ENSP00000357856.2:p.Asn774Ser
ENST00000392723.5:c.2447A>G	ENSP00000376484.1:p.Asn816Ser
ENST00000409503.5:c.2579A>G	ENSP00000386836.1:p.Asn860Ser
ENST00000491586.5:c.2474A>G	ENSP00000418408.1:p.Asn825Ser
ENST00000529669.1:c.806A>G	ENSP00000432295.1:p.Asn269Ser
ENST00000531094.5:c.2420A>G	ENSP00000431259.1:p.Asn807Ser
NM_001194937.1:c.2579A>G	NP_001181866.1:p.Asn860Ser
NM_001194938.1:c.2420A>G	NP_001181867.1:p.Asn807Ser
NM_015100.3:c.2606A>G	NP_055915.2:p.Asn869Ser
NM_145796.3:c.2321A>G	NP_665739.3:p.Asn774Ser
NM_207171.2:c.2447A>G	NP_997054.1:p.Asn816Ser
XM_005244999.1:c.2606A>G	XP_005245056.1:p.Asn869Ser
XM_005245000.3:c.2606A>G	XP_005245057.1:p.Asn869Ser
XM_005245001.1:c.2606A>G	XP_005245058.1:p.Asn869Ser
XM_005245005.1:c.2447A>G	XP_005245062.1:p.Asn816Ser
XM_005245006.3:c.2447A>G	XP_005245063.1:p.Asn816Ser
XM_011509330.1:c.2498A>G	XP_011507632.1:p.Asn833Ser
XM_011509331.1:c.2249A>G	XP_011507633.1:p.Asn750Ser
XR_921760.1:n.2434A>G
XM_005244999.3:c.2606A>G	XP_005245056.1:p.Asn869Ser
XM_005245000.4:c.2606A>G	XP_005245057.1:p.Asn869Ser
XM_005245001.2:c.2606A>G	XP_005245058.1:p.Asn869Ser
XM_005245005.2:c.2447A>G	XP_005245062.1:p.Asn816Ser
XM_005245006.5:c.2447A>G	XP_005245063.1:p.Asn816Ser
XM_017000744.1:c.2627A>G	XP_016856233.1:p.Asn876Ser
XM_017000745.2:c.2579A>G	XP_016856234.1:p.Asn860Ser
XM_017000746.1:c.2579A>G	XP_016856235.1:p.Asn860Ser
XM_017000748.1:c.2447A>G	XP_016856237.1:p.Asn816Ser
XM_017000749.1:c.2447A>G	XP_016856238.1:p.Asn816Ser
XM_024454305.1:c.2480A>G	XP_024310073.1:p.Asn827Ser
XM_024454306.1:c.1406A>G	XP_024310074.1:p.Asn469Ser
XR_002959801.1:n.2461A>G
NM_015100.4:c.2606A>G MANE Select	NP_055915.2:p.Asn869Ser
NM_001194937.2:c.2579A>G	NP_001181866.1:p.Asn860Ser
NM_001194938.2:c.2420A>G	NP_001181867.1:p.Asn807Ser
NM_145796.4:c.2321A>G	NP_665739.3:p.Asn774Ser