Canonical Allele Identifier: CA16044355
Gene: POGZ HGNC NCBI

Linked Data

ClinVar Variation Id: 375571
ClinVar RCV Id: RCV000417037
dbSNP Id: rs1057519392

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.151412348A>G , CM000663.2:g.151412348A>G GRCh38
NC_000001.10:g.151384824A>G , CM000663.1:g.151384824A>G GRCh37
NC_000001.9:g.149651448A>G NCBI36
NG_046601.1:g.52118T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000710270.1:c.1775T>C ENSP00000518163.1:p.Leu592Pro
ENST00000392723.6:c.1568T>C ENSP00000376484.1:p.Leu523Pro
ENST00000439756.2:c.1727T>C ENSP00000390156.2:p.Leu576Pro
ENST00000703168.1:c.1748T>C ENSP00000515214.1:p.Leu583Pro
ENST00000271715.7:c.1727T>C MANE Select ENSP00000271715.2:p.Leu576Pro
ENST00000271715.6:c.1727T>C ENSP00000271715.2:p.Leu576Pro
ENST00000358476.7:n.1596T>C
ENST00000368863.6:c.1442T>C ENSP00000357856.2:p.Leu481Pro
ENST00000392723.5:c.1568T>C ENSP00000376484.1:p.Leu523Pro
ENST00000409503.5:c.1700T>C ENSP00000386836.1:p.Leu567Pro
ENST00000491586.5:c.1568T>C ENSP00000418408.1:p.Leu523Pro
ENST00000529669.1:c.74T>C ENSP00000432295.1:p.Leu25Pro
ENST00000531094.5:c.1541T>C ENSP00000431259.1:p.Leu514Pro
NM_001194937.1:c.1700T>C NP_001181866.1:p.Leu567Pro
NM_001194938.1:c.1541T>C NP_001181867.1:p.Leu514Pro
NM_015100.3:c.1727T>C NP_055915.2:p.Leu576Pro
NM_145796.3:c.1442T>C NP_665739.3:p.Leu481Pro
NM_207171.2:c.1568T>C NP_997054.1:p.Leu523Pro
XM_005244999.1:c.1727T>C XP_005245056.1:p.Leu576Pro
XM_005245000.3:c.1727T>C XP_005245057.1:p.Leu576Pro
XM_005245001.1:c.1727T>C XP_005245058.1:p.Leu576Pro
XM_005245005.1:c.1568T>C XP_005245062.1:p.Leu523Pro
XM_005245006.3:c.1568T>C XP_005245063.1:p.Leu523Pro
XM_011509330.1:c.1619T>C XP_011507632.1:p.Leu540Pro
XM_011509331.1:c.1370T>C XP_011507633.1:p.Leu457Pro
XR_921760.1:n.1728T>C
XM_005244999.3:c.1727T>C XP_005245056.1:p.Leu576Pro
XM_005245000.4:c.1727T>C XP_005245057.1:p.Leu576Pro
XM_005245001.2:c.1727T>C XP_005245058.1:p.Leu576Pro
XM_005245005.2:c.1568T>C XP_005245062.1:p.Leu523Pro
XM_005245006.5:c.1568T>C XP_005245063.1:p.Leu523Pro
XM_017000744.1:c.1748T>C XP_016856233.1:p.Leu583Pro
XM_017000745.2:c.1700T>C XP_016856234.1:p.Leu567Pro
XM_017000746.1:c.1700T>C XP_016856235.1:p.Leu567Pro
XM_017000748.1:c.1568T>C XP_016856237.1:p.Leu523Pro
XM_017000749.1:c.1568T>C XP_016856238.1:p.Leu523Pro
XM_024454305.1:c.1748T>C XP_024310073.1:p.Leu583Pro
XM_024454306.1:c.527T>C XP_024310074.1:p.Leu176Pro
XR_002959801.1:n.1755T>C
NM_015100.4:c.1727T>C MANE Select NP_055915.2:p.Leu576Pro
NM_001194937.2:c.1700T>C NP_001181866.1:p.Leu567Pro
NM_001194938.2:c.1541T>C NP_001181867.1:p.Leu514Pro
NM_145796.4:c.1442T>C NP_665739.3:p.Leu481Pro