Canonical Allele Identifier: CA341956682

Gene: POGZ

Linked Data

• MyVariant Identifiers: chr1:g.151380977C>G (hg19) ; chr1:g.151408501C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151408501C>G , CM000663.2:g.151408501C>G	GRCh38
NC_000001.10:g.151380977C>G , CM000663.1:g.151380977C>G	GRCh37
NC_000001.9:g.149647601C>G	NCBI36
NG_046601.1:g.55965G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000710270.1:c.2190G>C	ENSP00000518163.1:p.Glu730Asp
ENST00000392723.6:c.1983G>C	ENSP00000376484.1:p.Glu661Asp
ENST00000439756.2:c.2142G>C	ENSP00000390156.2:p.Glu714Asp
ENST00000703168.1:c.2163G>C	ENSP00000515214.1:p.Glu721Asp
ENST00000271715.7:c.2142G>C MANE Select	ENSP00000271715.2:p.Glu714Asp
ENST00000271715.6:c.2142G>C	ENSP00000271715.2:p.Glu714Asp
ENST00000358476.7:n.2011G>C
ENST00000368863.6:c.1857G>C	ENSP00000357856.2:p.Glu619Asp
ENST00000392723.5:c.1983G>C	ENSP00000376484.1:p.Glu661Asp
ENST00000409503.5:c.2115G>C	ENSP00000386836.1:p.Glu705Asp
ENST00000491586.5:c.2010G>C	ENSP00000418408.1:p.Glu670Asp
ENST00000492528.1:n.53G>C
ENST00000529669.1:c.342G>C	ENSP00000432295.1:p.Glu114Asp
ENST00000531094.5:c.1956G>C	ENSP00000431259.1:p.Glu652Asp
NM_001194937.1:c.2115G>C	NP_001181866.1:p.Glu705Asp
NM_001194938.1:c.1956G>C	NP_001181867.1:p.Glu652Asp
NM_015100.3:c.2142G>C	NP_055915.2:p.Glu714Asp
NM_145796.3:c.1857G>C	NP_665739.3:p.Glu619Asp
NM_207171.2:c.1983G>C	NP_997054.1:p.Glu661Asp
XM_005244999.1:c.2142G>C	XP_005245056.1:p.Glu714Asp
XM_005245000.3:c.2142G>C	XP_005245057.1:p.Glu714Asp
XM_005245001.1:c.2142G>C	XP_005245058.1:p.Glu714Asp
XM_005245005.1:c.1983G>C	XP_005245062.1:p.Glu661Asp
XM_005245006.3:c.1983G>C	XP_005245063.1:p.Glu661Asp
XM_011509330.1:c.2034G>C	XP_011507632.1:p.Glu678Asp
XM_011509331.1:c.1785G>C	XP_011507633.1:p.Glu595Asp
XR_921760.1:n.2062+193G>C
XM_005244999.3:c.2142G>C	XP_005245056.1:p.Glu714Asp
XM_005245000.4:c.2142G>C	XP_005245057.1:p.Glu714Asp
XM_005245001.2:c.2142G>C	XP_005245058.1:p.Glu714Asp
XM_005245005.2:c.1983G>C	XP_005245062.1:p.Glu661Asp
XM_005245006.5:c.1983G>C	XP_005245063.1:p.Glu661Asp
XM_017000744.1:c.2163G>C	XP_016856233.1:p.Glu721Asp
XM_017000745.2:c.2115G>C	XP_016856234.1:p.Glu705Asp
XM_017000746.1:c.2115G>C	XP_016856235.1:p.Glu705Asp
XM_017000748.1:c.1983G>C	XP_016856237.1:p.Glu661Asp
XM_017000749.1:c.1983G>C	XP_016856238.1:p.Glu661Asp
XM_024454305.1:c.2016G>C	XP_024310073.1:p.Glu672Asp
XM_024454306.1:c.942G>C	XP_024310074.1:p.Glu314Asp
XR_002959801.1:n.2089+193G>C
NM_015100.4:c.2142G>C MANE Select	NP_055915.2:p.Glu714Asp
NM_001194937.2:c.2115G>C	NP_001181866.1:p.Glu705Asp
NM_001194938.2:c.1956G>C	NP_001181867.1:p.Glu652Asp
NM_145796.4:c.1857G>C	NP_665739.3:p.Glu619Asp