Canonical Allele Identifier: CA420910030
Gene: POGZ HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.151380890C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.151408414C>T , CM000663.2:g.151408414C>T GRCh38
NC_000001.10:g.151380890C>T , CM000663.1:g.151380890C>T GRCh37
NC_000001.9:g.149647514C>T NCBI36
NG_046601.1:g.56052G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000710270.1:c.2277G>A ENSP00000518163.1:p.Arg759=
ENST00000392723.6:c.2070G>A ENSP00000376484.1:p.Arg690=
ENST00000439756.2:c.2229G>A ENSP00000390156.2:p.Arg743=
ENST00000703168.1:c.2250G>A ENSP00000515214.1:p.Arg750=
ENST00000271715.7:c.2229G>A MANE Select ENSP00000271715.2:p.Arg743=
ENST00000271715.6:c.2229G>A ENSP00000271715.2:p.Arg743=
ENST00000358476.7:n.2098G>A
ENST00000368863.6:c.1944G>A ENSP00000357856.2:p.Arg648=
ENST00000392723.5:c.2070G>A ENSP00000376484.1:p.Arg690=
ENST00000409503.5:c.2202G>A ENSP00000386836.1:p.Arg734=
ENST00000491586.5:c.2097G>A ENSP00000418408.1:p.Arg699=
ENST00000492528.1:n.140G>A
ENST00000529669.1:c.429G>A ENSP00000432295.1:p.Arg143=
ENST00000531094.5:c.2043G>A ENSP00000431259.1:p.Arg681=
NM_001194937.1:c.2202G>A NP_001181866.1:p.Arg734=
NM_001194938.1:c.2043G>A NP_001181867.1:p.Arg681=
NM_015100.3:c.2229G>A NP_055915.2:p.Arg743=
NM_145796.3:c.1944G>A NP_665739.3:p.Arg648=
NM_207171.2:c.2070G>A NP_997054.1:p.Arg690=
XM_005244999.1:c.2229G>A XP_005245056.1:p.Arg743=
XM_005245000.3:c.2229G>A XP_005245057.1:p.Arg743=
XM_005245001.1:c.2229G>A XP_005245058.1:p.Arg743=
XM_005245005.1:c.2070G>A XP_005245062.1:p.Arg690=
XM_005245006.3:c.2070G>A XP_005245063.1:p.Arg690=
XM_011509330.1:c.2121G>A XP_011507632.1:p.Arg707=
XM_011509331.1:c.1872G>A XP_011507633.1:p.Arg624=
XR_921760.1:n.2063-174G>A
XM_005244999.3:c.2229G>A XP_005245056.1:p.Arg743=
XM_005245000.4:c.2229G>A XP_005245057.1:p.Arg743=
XM_005245001.2:c.2229G>A XP_005245058.1:p.Arg743=
XM_005245005.2:c.2070G>A XP_005245062.1:p.Arg690=
XM_005245006.5:c.2070G>A XP_005245063.1:p.Arg690=
XM_017000744.1:c.2250G>A XP_016856233.1:p.Arg750=
XM_017000745.2:c.2202G>A XP_016856234.1:p.Arg734=
XM_017000746.1:c.2202G>A XP_016856235.1:p.Arg734=
XM_017000748.1:c.2070G>A XP_016856237.1:p.Arg690=
XM_017000749.1:c.2070G>A XP_016856238.1:p.Arg690=
XM_024454305.1:c.2103G>A XP_024310073.1:p.Arg701=
XM_024454306.1:c.1029G>A XP_024310074.1:p.Arg343=
XR_002959801.1:n.2090-174G>A
NM_015100.4:c.2229G>A MANE Select NP_055915.2:p.Arg743=
NM_001194937.2:c.2202G>A NP_001181866.1:p.Arg734=
NM_001194938.2:c.2043G>A NP_001181867.1:p.Arg681=
NM_145796.4:c.1944G>A NP_665739.3:p.Arg648=