Canonical Allele Identifier: CA341956111

Gene: POGZ

Linked Data

• gnomAD v4: 1-151408415-C-T
• MyVariant Identifiers: chr1:g.151380891C>T (hg19) ; chr1:g.151408415C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151408415C>T , CM000663.2:g.151408415C>T	GRCh38
NC_000001.10:g.151380891C>T , CM000663.1:g.151380891C>T	GRCh37
NC_000001.9:g.149647515C>T	NCBI36
NG_046601.1:g.56051G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710270.1:c.2276G>A	ENSP00000518163.1:p.Arg759Lys
ENST00000392723.6:c.2069G>A	ENSP00000376484.1:p.Arg690Lys
ENST00000439756.2:c.2228G>A	ENSP00000390156.2:p.Arg743Lys
ENST00000703168.1:c.2249G>A	ENSP00000515214.1:p.Arg750Lys
ENST00000271715.7:c.2228G>A MANE Select	ENSP00000271715.2:p.Arg743Lys
ENST00000271715.6:c.2228G>A	ENSP00000271715.2:p.Arg743Lys
ENST00000358476.7:n.2097G>A
ENST00000368863.6:c.1943G>A	ENSP00000357856.2:p.Arg648Lys
ENST00000392723.5:c.2069G>A	ENSP00000376484.1:p.Arg690Lys
ENST00000409503.5:c.2201G>A	ENSP00000386836.1:p.Arg734Lys
ENST00000491586.5:c.2096G>A	ENSP00000418408.1:p.Arg699Lys
ENST00000492528.1:n.139G>A
ENST00000529669.1:c.428G>A	ENSP00000432295.1:p.Arg143Lys
ENST00000531094.5:c.2042G>A	ENSP00000431259.1:p.Arg681Lys
NM_001194937.1:c.2201G>A	NP_001181866.1:p.Arg734Lys
NM_001194938.1:c.2042G>A	NP_001181867.1:p.Arg681Lys
NM_015100.3:c.2228G>A	NP_055915.2:p.Arg743Lys
NM_145796.3:c.1943G>A	NP_665739.3:p.Arg648Lys
NM_207171.2:c.2069G>A	NP_997054.1:p.Arg690Lys
XM_005244999.1:c.2228G>A	XP_005245056.1:p.Arg743Lys
XM_005245000.3:c.2228G>A	XP_005245057.1:p.Arg743Lys
XM_005245001.1:c.2228G>A	XP_005245058.1:p.Arg743Lys
XM_005245005.1:c.2069G>A	XP_005245062.1:p.Arg690Lys
XM_005245006.3:c.2069G>A	XP_005245063.1:p.Arg690Lys
XM_011509330.1:c.2120G>A	XP_011507632.1:p.Arg707Lys
XM_011509331.1:c.1871G>A	XP_011507633.1:p.Arg624Lys
XR_921760.1:n.2063-175G>A
XM_005244999.3:c.2228G>A	XP_005245056.1:p.Arg743Lys
XM_005245000.4:c.2228G>A	XP_005245057.1:p.Arg743Lys
XM_005245001.2:c.2228G>A	XP_005245058.1:p.Arg743Lys
XM_005245005.2:c.2069G>A	XP_005245062.1:p.Arg690Lys
XM_005245006.5:c.2069G>A	XP_005245063.1:p.Arg690Lys
XM_017000744.1:c.2249G>A	XP_016856233.1:p.Arg750Lys
XM_017000745.2:c.2201G>A	XP_016856234.1:p.Arg734Lys
XM_017000746.1:c.2201G>A	XP_016856235.1:p.Arg734Lys
XM_017000748.1:c.2069G>A	XP_016856237.1:p.Arg690Lys
XM_017000749.1:c.2069G>A	XP_016856238.1:p.Arg690Lys
XM_024454305.1:c.2102G>A	XP_024310073.1:p.Arg701Lys
XM_024454306.1:c.1028G>A	XP_024310074.1:p.Arg343Lys
XR_002959801.1:n.2090-175G>A
NM_015100.4:c.2228G>A MANE Select	NP_055915.2:p.Arg743Lys
NM_001194937.2:c.2201G>A	NP_001181866.1:p.Arg734Lys
NM_001194938.2:c.2042G>A	NP_001181867.1:p.Arg681Lys
NM_145796.4:c.1943G>A	NP_665739.3:p.Arg648Lys