Canonical Allele Identifier: CA341949417
Gene: POGZ HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.151406334G>T , CM000663.2:g.151406334G>T GRCh38
NC_000001.10:g.151378810G>T , CM000663.1:g.151378810G>T GRCh37
NC_000001.9:g.149645434G>T NCBI36
NG_046601.1:g.58132C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000710270.1:c.2749C>A ENSP00000518163.1:p.Leu917Ile
ENST00000392723.6:c.2542C>A ENSP00000376484.1:p.Leu848Ile
ENST00000439756.2:c.2701C>A ENSP00000390156.2:p.Leu901Ile
ENST00000703168.1:c.2722C>A ENSP00000515214.1:p.Leu908Ile
ENST00000271715.7:c.2701C>A MANE Select ENSP00000271715.2:p.Leu901Ile
ENST00000271715.6:c.2701C>A ENSP00000271715.2:p.Leu901Ile
ENST00000358476.7:n.2849C>A
ENST00000368863.6:c.2416C>A ENSP00000357856.2:p.Leu806Ile
ENST00000392723.5:c.2542C>A ENSP00000376484.1:p.Leu848Ile
ENST00000409503.5:c.2674C>A ENSP00000386836.1:p.Leu892Ile
ENST00000491586.5:c.2569C>A ENSP00000418408.1:p.Leu857Ile
ENST00000529669.1:c.901C>A ENSP00000432295.1:p.Leu301Ile
ENST00000531094.5:c.2515C>A ENSP00000431259.1:p.Leu839Ile
NM_001194937.1:c.2674C>A NP_001181866.1:p.Leu892Ile
NM_001194938.1:c.2515C>A NP_001181867.1:p.Leu839Ile
NM_015100.3:c.2701C>A NP_055915.2:p.Leu901Ile
NM_145796.3:c.2416C>A NP_665739.3:p.Leu806Ile
NM_207171.2:c.2542C>A NP_997054.1:p.Leu848Ile
XM_005244999.1:c.2701C>A XP_005245056.1:p.Leu901Ile
XM_005245000.3:c.2701C>A XP_005245057.1:p.Leu901Ile
XM_005245001.1:c.2701C>A XP_005245058.1:p.Leu901Ile
XM_005245005.1:c.2542C>A XP_005245062.1:p.Leu848Ile
XM_005245006.3:c.2542C>A XP_005245063.1:p.Leu848Ile
XM_011509330.1:c.2593C>A XP_011507632.1:p.Leu865Ile
XM_011509331.1:c.2344C>A XP_011507633.1:p.Leu782Ile
XM_005244999.3:c.2701C>A XP_005245056.1:p.Leu901Ile
XM_005245000.4:c.2701C>A XP_005245057.1:p.Leu901Ile
XM_005245001.2:c.2701C>A XP_005245058.1:p.Leu901Ile
XM_005245005.2:c.2542C>A XP_005245062.1:p.Leu848Ile
XM_005245006.5:c.2542C>A XP_005245063.1:p.Leu848Ile
XM_017000744.1:c.2722C>A XP_016856233.1:p.Leu908Ile
XM_017000745.2:c.2674C>A XP_016856234.1:p.Leu892Ile
XM_017000746.1:c.2674C>A XP_016856235.1:p.Leu892Ile
XM_017000748.1:c.2542C>A XP_016856237.1:p.Leu848Ile
XM_017000749.1:c.2542C>A XP_016856238.1:p.Leu848Ile
XM_024454305.1:c.2575C>A XP_024310073.1:p.Leu859Ile
XM_024454306.1:c.1501C>A XP_024310074.1:p.Leu501Ile
XR_002959801.1:n.2556C>A
NM_015100.4:c.2701C>A MANE Select NP_055915.2:p.Leu901Ile
NM_001194937.2:c.2674C>A NP_001181866.1:p.Leu892Ile
NM_001194938.2:c.2515C>A NP_001181867.1:p.Leu839Ile
NM_145796.4:c.2416C>A NP_665739.3:p.Leu806Ile