Canonical Allele Identifier: CA420910042

Gene: POGZ

Linked Data

• MyVariant Identifiers: chr1:g.151380896A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151408420A>T , CM000663.2:g.151408420A>T	GRCh38
NC_000001.10:g.151380896A>T , CM000663.1:g.151380896A>T	GRCh37
NC_000001.9:g.149647520A>T	NCBI36
NG_046601.1:g.56046T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000710270.1:c.2271T>A	ENSP00000518163.1:p.Ala757=
ENST00000392723.6:c.2064T>A	ENSP00000376484.1:p.Ala688=
ENST00000439756.2:c.2223T>A	ENSP00000390156.2:p.Ala741=
ENST00000703168.1:c.2244T>A	ENSP00000515214.1:p.Ala748=
ENST00000271715.7:c.2223T>A MANE Select	ENSP00000271715.2:p.Ala741=
ENST00000271715.6:c.2223T>A	ENSP00000271715.2:p.Ala741=
ENST00000358476.7:n.2092T>A
ENST00000368863.6:c.1938T>A	ENSP00000357856.2:p.Ala646=
ENST00000392723.5:c.2064T>A	ENSP00000376484.1:p.Ala688=
ENST00000409503.5:c.2196T>A	ENSP00000386836.1:p.Ala732=
ENST00000491586.5:c.2091T>A	ENSP00000418408.1:p.Ala697=
ENST00000492528.1:n.134T>A
ENST00000529669.1:c.423T>A	ENSP00000432295.1:p.Ala141=
ENST00000531094.5:c.2037T>A	ENSP00000431259.1:p.Ala679=
NM_001194937.1:c.2196T>A	NP_001181866.1:p.Ala732=
NM_001194938.1:c.2037T>A	NP_001181867.1:p.Ala679=
NM_015100.3:c.2223T>A	NP_055915.2:p.Ala741=
NM_145796.3:c.1938T>A	NP_665739.3:p.Ala646=
NM_207171.2:c.2064T>A	NP_997054.1:p.Ala688=
XM_005244999.1:c.2223T>A	XP_005245056.1:p.Ala741=
XM_005245000.3:c.2223T>A	XP_005245057.1:p.Ala741=
XM_005245001.1:c.2223T>A	XP_005245058.1:p.Ala741=
XM_005245005.1:c.2064T>A	XP_005245062.1:p.Ala688=
XM_005245006.3:c.2064T>A	XP_005245063.1:p.Ala688=
XM_011509330.1:c.2115T>A	XP_011507632.1:p.Ala705=
XM_011509331.1:c.1866T>A	XP_011507633.1:p.Ala622=
XR_921760.1:n.2063-180T>A
XM_005244999.3:c.2223T>A	XP_005245056.1:p.Ala741=
XM_005245000.4:c.2223T>A	XP_005245057.1:p.Ala741=
XM_005245001.2:c.2223T>A	XP_005245058.1:p.Ala741=
XM_005245005.2:c.2064T>A	XP_005245062.1:p.Ala688=
XM_005245006.5:c.2064T>A	XP_005245063.1:p.Ala688=
XM_017000744.1:c.2244T>A	XP_016856233.1:p.Ala748=
XM_017000745.2:c.2196T>A	XP_016856234.1:p.Ala732=
XM_017000746.1:c.2196T>A	XP_016856235.1:p.Ala732=
XM_017000748.1:c.2064T>A	XP_016856237.1:p.Ala688=
XM_017000749.1:c.2064T>A	XP_016856238.1:p.Ala688=
XM_024454305.1:c.2097T>A	XP_024310073.1:p.Ala699=
XM_024454306.1:c.1023T>A	XP_024310074.1:p.Ala341=
XR_002959801.1:n.2090-180T>A
NM_015100.4:c.2223T>A MANE Select	NP_055915.2:p.Ala741=
NM_001194937.2:c.2196T>A	NP_001181866.1:p.Ala732=
NM_001194938.2:c.2037T>A	NP_001181867.1:p.Ala679=
NM_145796.4:c.1938T>A	NP_665739.3:p.Ala646=