Canonical Allele Identifier: CA341956670

Gene: POGZ

Linked Data

• dbSNP Id: rs1377041125
• gnomAD v2: 1-151380976-C-T
• MyVariant Identifiers: chr1:g.151380976C>T (hg19) ; chr1:g.151408500C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151408500C>T , CM000663.2:g.151408500C>T	GRCh38
NC_000001.10:g.151380976C>T , CM000663.1:g.151380976C>T	GRCh37
NC_000001.9:g.149647600C>T	NCBI36
NG_046601.1:g.55966G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000710270.1:c.2191G>A	ENSP00000518163.1:p.Ala731Thr
ENST00000392723.6:c.1984G>A	ENSP00000376484.1:p.Ala662Thr
ENST00000439756.2:c.2143G>A	ENSP00000390156.2:p.Ala715Thr
ENST00000703168.1:c.2164G>A	ENSP00000515214.1:p.Ala722Thr
ENST00000271715.7:c.2143G>A MANE Select	ENSP00000271715.2:p.Ala715Thr
ENST00000271715.6:c.2143G>A	ENSP00000271715.2:p.Ala715Thr
ENST00000358476.7:n.2012G>A
ENST00000368863.6:c.1858G>A	ENSP00000357856.2:p.Ala620Thr
ENST00000392723.5:c.1984G>A	ENSP00000376484.1:p.Ala662Thr
ENST00000409503.5:c.2116G>A	ENSP00000386836.1:p.Ala706Thr
ENST00000491586.5:c.2011G>A	ENSP00000418408.1:p.Ala671Thr
ENST00000492528.1:n.54G>A
ENST00000529669.1:c.343G>A	ENSP00000432295.1:p.Ala115Thr
ENST00000531094.5:c.1957G>A	ENSP00000431259.1:p.Ala653Thr
NM_001194937.1:c.2116G>A	NP_001181866.1:p.Ala706Thr
NM_001194938.1:c.1957G>A	NP_001181867.1:p.Ala653Thr
NM_015100.3:c.2143G>A	NP_055915.2:p.Ala715Thr
NM_145796.3:c.1858G>A	NP_665739.3:p.Ala620Thr
NM_207171.2:c.1984G>A	NP_997054.1:p.Ala662Thr
XM_005244999.1:c.2143G>A	XP_005245056.1:p.Ala715Thr
XM_005245000.3:c.2143G>A	XP_005245057.1:p.Ala715Thr
XM_005245001.1:c.2143G>A	XP_005245058.1:p.Ala715Thr
XM_005245005.1:c.1984G>A	XP_005245062.1:p.Ala662Thr
XM_005245006.3:c.1984G>A	XP_005245063.1:p.Ala662Thr
XM_011509330.1:c.2035G>A	XP_011507632.1:p.Ala679Thr
XM_011509331.1:c.1786G>A	XP_011507633.1:p.Ala596Thr
XR_921760.1:n.2062+194G>A
XM_005244999.3:c.2143G>A	XP_005245056.1:p.Ala715Thr
XM_005245000.4:c.2143G>A	XP_005245057.1:p.Ala715Thr
XM_005245001.2:c.2143G>A	XP_005245058.1:p.Ala715Thr
XM_005245005.2:c.1984G>A	XP_005245062.1:p.Ala662Thr
XM_005245006.5:c.1984G>A	XP_005245063.1:p.Ala662Thr
XM_017000744.1:c.2164G>A	XP_016856233.1:p.Ala722Thr
XM_017000745.2:c.2116G>A	XP_016856234.1:p.Ala706Thr
XM_017000746.1:c.2116G>A	XP_016856235.1:p.Ala706Thr
XM_017000748.1:c.1984G>A	XP_016856237.1:p.Ala662Thr
XM_017000749.1:c.1984G>A	XP_016856238.1:p.Ala662Thr
XM_024454305.1:c.2017G>A	XP_024310073.1:p.Ala673Thr
XM_024454306.1:c.943G>A	XP_024310074.1:p.Ala315Thr
XR_002959801.1:n.2089+194G>A
NM_015100.4:c.2143G>A MANE Select	NP_055915.2:p.Ala715Thr
NM_001194937.2:c.2116G>A	NP_001181866.1:p.Ala706Thr
NM_001194938.2:c.1957G>A	NP_001181867.1:p.Ala653Thr
NM_145796.4:c.1858G>A	NP_665739.3:p.Ala620Thr