Canonical Allele Identifier: CA341947497

Gene: POGZ

Linked Data

• gnomAD v4: 1-151406115-A-C
• MyVariant Identifiers: chr1:g.151378591A>C (hg19) ; chr1:g.151406115A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151406115A>C , CM000663.2:g.151406115A>C	GRCh38
NC_000001.10:g.151378591A>C , CM000663.1:g.151378591A>C	GRCh37
NC_000001.9:g.149645215A>C	NCBI36
NG_046601.1:g.58351T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000710270.1:c.2968T>G	ENSP00000518163.1:p.Ser990Ala
ENST00000392723.6:c.2761T>G	ENSP00000376484.1:p.Ser921Ala
ENST00000439756.2:c.2920T>G	ENSP00000390156.2:p.Ser974Ala
ENST00000703168.1:c.2941T>G	ENSP00000515214.1:p.Ser981Ala
ENST00000271715.7:c.2920T>G MANE Select	ENSP00000271715.2:p.Ser974Ala
ENST00000271715.6:c.2920T>G	ENSP00000271715.2:p.Ser974Ala
ENST00000358476.7:n.3068T>G
ENST00000368863.6:c.2635T>G	ENSP00000357856.2:p.Ser879Ala
ENST00000392723.5:c.2761T>G	ENSP00000376484.1:p.Ser921Ala
ENST00000409503.5:c.2893T>G	ENSP00000386836.1:p.Ser965Ala
ENST00000491586.5:c.2788T>G	ENSP00000418408.1:p.Ser930Ala
ENST00000531094.5:c.2734T>G	ENSP00000431259.1:p.Ser912Ala
NM_001194937.1:c.2893T>G	NP_001181866.1:p.Ser965Ala
NM_001194938.1:c.2734T>G	NP_001181867.1:p.Ser912Ala
NM_015100.3:c.2920T>G	NP_055915.2:p.Ser974Ala
NM_145796.3:c.2635T>G	NP_665739.3:p.Ser879Ala
NM_207171.2:c.2761T>G	NP_997054.1:p.Ser921Ala
XM_005244999.1:c.2920T>G	XP_005245056.1:p.Ser974Ala
XM_005245000.3:c.2920T>G	XP_005245057.1:p.Ser974Ala
XM_005245001.1:c.2920T>G	XP_005245058.1:p.Ser974Ala
XM_005245005.1:c.2761T>G	XP_005245062.1:p.Ser921Ala
XM_005245006.3:c.2761T>G	XP_005245063.1:p.Ser921Ala
XM_011509330.1:c.2812T>G	XP_011507632.1:p.Ser938Ala
XM_011509331.1:c.2563T>G	XP_011507633.1:p.Ser855Ala
XM_005244999.3:c.2920T>G	XP_005245056.1:p.Ser974Ala
XM_005245000.4:c.2920T>G	XP_005245057.1:p.Ser974Ala
XM_005245001.2:c.2920T>G	XP_005245058.1:p.Ser974Ala
XM_005245005.2:c.2761T>G	XP_005245062.1:p.Ser921Ala
XM_005245006.5:c.2761T>G	XP_005245063.1:p.Ser921Ala
XM_017000744.1:c.2941T>G	XP_016856233.1:p.Ser981Ala
XM_017000745.2:c.2893T>G	XP_016856234.1:p.Ser965Ala
XM_017000746.1:c.2893T>G	XP_016856235.1:p.Ser965Ala
XM_017000748.1:c.2761T>G	XP_016856237.1:p.Ser921Ala
XM_017000749.1:c.2761T>G	XP_016856238.1:p.Ser921Ala
XM_024454305.1:c.2794T>G	XP_024310073.1:p.Ser932Ala
XM_024454306.1:c.1720T>G	XP_024310074.1:p.Ser574Ala
XR_002959801.1:n.2775T>G
NM_015100.4:c.2920T>G MANE Select	NP_055915.2:p.Ser974Ala
NM_001194937.2:c.2893T>G	NP_001181866.1:p.Ser965Ala
NM_001194938.2:c.2734T>G	NP_001181867.1:p.Ser912Ala
NM_145796.4:c.2635T>G	NP_665739.3:p.Ser879Ala