Canonical Allele Identifier: CA341956690

Gene: POGZ

Linked Data

• MyVariant Identifiers: chr1:g.151380978T>G (hg19) ; chr1:g.151408502T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151408502T>G , CM000663.2:g.151408502T>G	GRCh38
NC_000001.10:g.151380978T>G , CM000663.1:g.151380978T>G	GRCh37
NC_000001.9:g.149647602T>G	NCBI36
NG_046601.1:g.55964A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000710270.1:c.2189A>C	ENSP00000518163.1:p.Glu730Ala
ENST00000392723.6:c.1982A>C	ENSP00000376484.1:p.Glu661Ala
ENST00000439756.2:c.2141A>C	ENSP00000390156.2:p.Glu714Ala
ENST00000703168.1:c.2162A>C	ENSP00000515214.1:p.Glu721Ala
ENST00000271715.7:c.2141A>C MANE Select	ENSP00000271715.2:p.Glu714Ala
ENST00000271715.6:c.2141A>C	ENSP00000271715.2:p.Glu714Ala
ENST00000358476.7:n.2010A>C
ENST00000368863.6:c.1856A>C	ENSP00000357856.2:p.Glu619Ala
ENST00000392723.5:c.1982A>C	ENSP00000376484.1:p.Glu661Ala
ENST00000409503.5:c.2114A>C	ENSP00000386836.1:p.Glu705Ala
ENST00000491586.5:c.2009A>C	ENSP00000418408.1:p.Glu670Ala
ENST00000492528.1:n.52A>C
ENST00000529669.1:c.341A>C	ENSP00000432295.1:p.Glu114Ala
ENST00000531094.5:c.1955A>C	ENSP00000431259.1:p.Glu652Ala
NM_001194937.1:c.2114A>C	NP_001181866.1:p.Glu705Ala
NM_001194938.1:c.1955A>C	NP_001181867.1:p.Glu652Ala
NM_015100.3:c.2141A>C	NP_055915.2:p.Glu714Ala
NM_145796.3:c.1856A>C	NP_665739.3:p.Glu619Ala
NM_207171.2:c.1982A>C	NP_997054.1:p.Glu661Ala
XM_005244999.1:c.2141A>C	XP_005245056.1:p.Glu714Ala
XM_005245000.3:c.2141A>C	XP_005245057.1:p.Glu714Ala
XM_005245001.1:c.2141A>C	XP_005245058.1:p.Glu714Ala
XM_005245005.1:c.1982A>C	XP_005245062.1:p.Glu661Ala
XM_005245006.3:c.1982A>C	XP_005245063.1:p.Glu661Ala
XM_011509330.1:c.2033A>C	XP_011507632.1:p.Glu678Ala
XM_011509331.1:c.1784A>C	XP_011507633.1:p.Glu595Ala
XR_921760.1:n.2062+192A>C
XM_005244999.3:c.2141A>C	XP_005245056.1:p.Glu714Ala
XM_005245000.4:c.2141A>C	XP_005245057.1:p.Glu714Ala
XM_005245001.2:c.2141A>C	XP_005245058.1:p.Glu714Ala
XM_005245005.2:c.1982A>C	XP_005245062.1:p.Glu661Ala
XM_005245006.5:c.1982A>C	XP_005245063.1:p.Glu661Ala
XM_017000744.1:c.2162A>C	XP_016856233.1:p.Glu721Ala
XM_017000745.2:c.2114A>C	XP_016856234.1:p.Glu705Ala
XM_017000746.1:c.2114A>C	XP_016856235.1:p.Glu705Ala
XM_017000748.1:c.1982A>C	XP_016856237.1:p.Glu661Ala
XM_017000749.1:c.1982A>C	XP_016856238.1:p.Glu661Ala
XM_024454305.1:c.2015A>C	XP_024310073.1:p.Glu672Ala
XM_024454306.1:c.941A>C	XP_024310074.1:p.Glu314Ala
XR_002959801.1:n.2089+192A>C
NM_015100.4:c.2141A>C MANE Select	NP_055915.2:p.Glu714Ala
NM_001194937.2:c.2114A>C	NP_001181866.1:p.Glu705Ala
NM_001194938.2:c.1955A>C	NP_001181867.1:p.Glu652Ala
NM_145796.4:c.1856A>C	NP_665739.3:p.Glu619Ala