Canonical Allele Identifier: CA420910213

Gene: POGZ

Linked Data

• MyVariant Identifiers: chr1:g.151380971T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151408495T>G , CM000663.2:g.151408495T>G	GRCh38
NC_000001.10:g.151380971T>G , CM000663.1:g.151380971T>G	GRCh37
NC_000001.9:g.149647595T>G	NCBI36
NG_046601.1:g.55971A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000710270.1:c.2196A>C	ENSP00000518163.1:p.Ala732=
ENST00000392723.6:c.1989A>C	ENSP00000376484.1:p.Ala663=
ENST00000439756.2:c.2148A>C	ENSP00000390156.2:p.Ala716=
ENST00000703168.1:c.2169A>C	ENSP00000515214.1:p.Ala723=
ENST00000271715.7:c.2148A>C MANE Select	ENSP00000271715.2:p.Ala716=
ENST00000271715.6:c.2148A>C	ENSP00000271715.2:p.Ala716=
ENST00000358476.7:n.2017A>C
ENST00000368863.6:c.1863A>C	ENSP00000357856.2:p.Ala621=
ENST00000392723.5:c.1989A>C	ENSP00000376484.1:p.Ala663=
ENST00000409503.5:c.2121A>C	ENSP00000386836.1:p.Ala707=
ENST00000491586.5:c.2016A>C	ENSP00000418408.1:p.Ala672=
ENST00000492528.1:n.59A>C
ENST00000529669.1:c.348A>C	ENSP00000432295.1:p.Ala116=
ENST00000531094.5:c.1962A>C	ENSP00000431259.1:p.Ala654=
NM_001194937.1:c.2121A>C	NP_001181866.1:p.Ala707=
NM_001194938.1:c.1962A>C	NP_001181867.1:p.Ala654=
NM_015100.3:c.2148A>C	NP_055915.2:p.Ala716=
NM_145796.3:c.1863A>C	NP_665739.3:p.Ala621=
NM_207171.2:c.1989A>C	NP_997054.1:p.Ala663=
XM_005244999.1:c.2148A>C	XP_005245056.1:p.Ala716=
XM_005245000.3:c.2148A>C	XP_005245057.1:p.Ala716=
XM_005245001.1:c.2148A>C	XP_005245058.1:p.Ala716=
XM_005245005.1:c.1989A>C	XP_005245062.1:p.Ala663=
XM_005245006.3:c.1989A>C	XP_005245063.1:p.Ala663=
XM_011509330.1:c.2040A>C	XP_011507632.1:p.Ala680=
XM_011509331.1:c.1791A>C	XP_011507633.1:p.Ala597=
XR_921760.1:n.2062+199A>C
XM_005244999.3:c.2148A>C	XP_005245056.1:p.Ala716=
XM_005245000.4:c.2148A>C	XP_005245057.1:p.Ala716=
XM_005245001.2:c.2148A>C	XP_005245058.1:p.Ala716=
XM_005245005.2:c.1989A>C	XP_005245062.1:p.Ala663=
XM_005245006.5:c.1989A>C	XP_005245063.1:p.Ala663=
XM_017000744.1:c.2169A>C	XP_016856233.1:p.Ala723=
XM_017000745.2:c.2121A>C	XP_016856234.1:p.Ala707=
XM_017000746.1:c.2121A>C	XP_016856235.1:p.Ala707=
XM_017000748.1:c.1989A>C	XP_016856237.1:p.Ala663=
XM_017000749.1:c.1989A>C	XP_016856238.1:p.Ala663=
XM_024454305.1:c.2022A>C	XP_024310073.1:p.Ala674=
XM_024454306.1:c.948A>C	XP_024310074.1:p.Ala316=
XR_002959801.1:n.2089+199A>C
NM_015100.4:c.2148A>C MANE Select	NP_055915.2:p.Ala716=
NM_001194937.2:c.2121A>C	NP_001181866.1:p.Ala707=
NM_001194938.2:c.1962A>C	NP_001181867.1:p.Ala654=
NM_145796.4:c.1863A>C	NP_665739.3:p.Ala621=