Canonical Allele Identifier: CA420909632

Gene: POGZ

Linked Data

• dbSNP Id: rs1372783199
• gnomAD v2: 1-151378817-T-C
• gnomAD v4: 1-151406341-T-C
• MyVariant Identifiers: chr1:g.151378817T>C (hg19) ; chr1:g.151406341T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151406341T>C , CM000663.2:g.151406341T>C	GRCh38
NC_000001.10:g.151378817T>C , CM000663.1:g.151378817T>C	GRCh37
NC_000001.9:g.149645441T>C	NCBI36
NG_046601.1:g.58125A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710270.1:c.2742A>G	ENSP00000518163.1:p.Glu914=
ENST00000392723.6:c.2535A>G	ENSP00000376484.1:p.Glu845=
ENST00000439756.2:c.2694A>G	ENSP00000390156.2:p.Glu898=
ENST00000703168.1:c.2715A>G	ENSP00000515214.1:p.Glu905=
ENST00000271715.7:c.2694A>G MANE Select	ENSP00000271715.2:p.Glu898=
ENST00000271715.6:c.2694A>G	ENSP00000271715.2:p.Glu898=
ENST00000358476.7:n.2842A>G
ENST00000368863.6:c.2409A>G	ENSP00000357856.2:p.Glu803=
ENST00000392723.5:c.2535A>G	ENSP00000376484.1:p.Glu845=
ENST00000409503.5:c.2667A>G	ENSP00000386836.1:p.Glu889=
ENST00000491586.5:c.2562A>G	ENSP00000418408.1:p.Glu854=
ENST00000529669.1:c.894A>G	ENSP00000432295.1:p.Glu298=
ENST00000531094.5:c.2508A>G	ENSP00000431259.1:p.Glu836=
NM_001194937.1:c.2667A>G	NP_001181866.1:p.Glu889=
NM_001194938.1:c.2508A>G	NP_001181867.1:p.Glu836=
NM_015100.3:c.2694A>G	NP_055915.2:p.Glu898=
NM_145796.3:c.2409A>G	NP_665739.3:p.Glu803=
NM_207171.2:c.2535A>G	NP_997054.1:p.Glu845=
XM_005244999.1:c.2694A>G	XP_005245056.1:p.Glu898=
XM_005245000.3:c.2694A>G	XP_005245057.1:p.Glu898=
XM_005245001.1:c.2694A>G	XP_005245058.1:p.Glu898=
XM_005245005.1:c.2535A>G	XP_005245062.1:p.Glu845=
XM_005245006.3:c.2535A>G	XP_005245063.1:p.Glu845=
XM_011509330.1:c.2586A>G	XP_011507632.1:p.Glu862=
XM_011509331.1:c.2337A>G	XP_011507633.1:p.Glu779=
XM_005244999.3:c.2694A>G	XP_005245056.1:p.Glu898=
XM_005245000.4:c.2694A>G	XP_005245057.1:p.Glu898=
XM_005245001.2:c.2694A>G	XP_005245058.1:p.Glu898=
XM_005245005.2:c.2535A>G	XP_005245062.1:p.Glu845=
XM_005245006.5:c.2535A>G	XP_005245063.1:p.Glu845=
XM_017000744.1:c.2715A>G	XP_016856233.1:p.Glu905=
XM_017000745.2:c.2667A>G	XP_016856234.1:p.Glu889=
XM_017000746.1:c.2667A>G	XP_016856235.1:p.Glu889=
XM_017000748.1:c.2535A>G	XP_016856237.1:p.Glu845=
XM_017000749.1:c.2535A>G	XP_016856238.1:p.Glu845=
XM_024454305.1:c.2568A>G	XP_024310073.1:p.Glu856=
XM_024454306.1:c.1494A>G	XP_024310074.1:p.Glu498=
XR_002959801.1:n.2549A>G
NM_015100.4:c.2694A>G MANE Select	NP_055915.2:p.Glu898=
NM_001194937.2:c.2667A>G	NP_001181866.1:p.Glu889=
NM_001194938.2:c.2508A>G	NP_001181867.1:p.Glu836=
NM_145796.4:c.2409A>G	NP_665739.3:p.Glu803=