Canonical Allele Identifier: CA341956654

Gene: POGZ

Linked Data

• MyVariant Identifiers: chr1:g.151380973C>A (hg19) ; chr1:g.151408497C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151408497C>A , CM000663.2:g.151408497C>A	GRCh38
NC_000001.10:g.151380973C>A , CM000663.1:g.151380973C>A	GRCh37
NC_000001.9:g.149647597C>A	NCBI36
NG_046601.1:g.55969G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000710270.1:c.2194G>T	ENSP00000518163.1:p.Ala732Ser
ENST00000392723.6:c.1987G>T	ENSP00000376484.1:p.Ala663Ser
ENST00000439756.2:c.2146G>T	ENSP00000390156.2:p.Ala716Ser
ENST00000703168.1:c.2167G>T	ENSP00000515214.1:p.Ala723Ser
ENST00000271715.7:c.2146G>T MANE Select	ENSP00000271715.2:p.Ala716Ser
ENST00000271715.6:c.2146G>T	ENSP00000271715.2:p.Ala716Ser
ENST00000358476.7:n.2015G>T
ENST00000368863.6:c.1861G>T	ENSP00000357856.2:p.Ala621Ser
ENST00000392723.5:c.1987G>T	ENSP00000376484.1:p.Ala663Ser
ENST00000409503.5:c.2119G>T	ENSP00000386836.1:p.Ala707Ser
ENST00000491586.5:c.2014G>T	ENSP00000418408.1:p.Ala672Ser
ENST00000492528.1:n.57G>T
ENST00000529669.1:c.346G>T	ENSP00000432295.1:p.Ala116Ser
ENST00000531094.5:c.1960G>T	ENSP00000431259.1:p.Ala654Ser
NM_001194937.1:c.2119G>T	NP_001181866.1:p.Ala707Ser
NM_001194938.1:c.1960G>T	NP_001181867.1:p.Ala654Ser
NM_015100.3:c.2146G>T	NP_055915.2:p.Ala716Ser
NM_145796.3:c.1861G>T	NP_665739.3:p.Ala621Ser
NM_207171.2:c.1987G>T	NP_997054.1:p.Ala663Ser
XM_005244999.1:c.2146G>T	XP_005245056.1:p.Ala716Ser
XM_005245000.3:c.2146G>T	XP_005245057.1:p.Ala716Ser
XM_005245001.1:c.2146G>T	XP_005245058.1:p.Ala716Ser
XM_005245005.1:c.1987G>T	XP_005245062.1:p.Ala663Ser
XM_005245006.3:c.1987G>T	XP_005245063.1:p.Ala663Ser
XM_011509330.1:c.2038G>T	XP_011507632.1:p.Ala680Ser
XM_011509331.1:c.1789G>T	XP_011507633.1:p.Ala597Ser
XR_921760.1:n.2062+197G>T
XM_005244999.3:c.2146G>T	XP_005245056.1:p.Ala716Ser
XM_005245000.4:c.2146G>T	XP_005245057.1:p.Ala716Ser
XM_005245001.2:c.2146G>T	XP_005245058.1:p.Ala716Ser
XM_005245005.2:c.1987G>T	XP_005245062.1:p.Ala663Ser
XM_005245006.5:c.1987G>T	XP_005245063.1:p.Ala663Ser
XM_017000744.1:c.2167G>T	XP_016856233.1:p.Ala723Ser
XM_017000745.2:c.2119G>T	XP_016856234.1:p.Ala707Ser
XM_017000746.1:c.2119G>T	XP_016856235.1:p.Ala707Ser
XM_017000748.1:c.1987G>T	XP_016856237.1:p.Ala663Ser
XM_017000749.1:c.1987G>T	XP_016856238.1:p.Ala663Ser
XM_024454305.1:c.2020G>T	XP_024310073.1:p.Ala674Ser
XM_024454306.1:c.946G>T	XP_024310074.1:p.Ala316Ser
XR_002959801.1:n.2089+197G>T
NM_015100.4:c.2146G>T MANE Select	NP_055915.2:p.Ala716Ser
NM_001194937.2:c.2119G>T	NP_001181866.1:p.Ala707Ser
NM_001194938.2:c.1960G>T	NP_001181867.1:p.Ala654Ser
NM_145796.4:c.1861G>T	NP_665739.3:p.Ala621Ser