Canonical Allele Identifier: CA341948230
Gene: POGZ HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.151406184C>T , CM000663.2:g.151406184C>T GRCh38
NC_000001.10:g.151378660C>T , CM000663.1:g.151378660C>T GRCh37
NC_000001.9:g.149645284C>T NCBI36
NG_046601.1:g.58282G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000710270.1:c.2899G>A ENSP00000518163.1:p.Val967Ile
ENST00000392723.6:c.2692G>A ENSP00000376484.1:p.Val898Ile
ENST00000439756.2:c.2851G>A ENSP00000390156.2:p.Val951Ile
ENST00000703168.1:c.2872G>A ENSP00000515214.1:p.Val958Ile
ENST00000271715.7:c.2851G>A MANE Select ENSP00000271715.2:p.Val951Ile
ENST00000271715.6:c.2851G>A ENSP00000271715.2:p.Val951Ile
ENST00000358476.7:n.2999G>A
ENST00000368863.6:c.2566G>A ENSP00000357856.2:p.Val856Ile
ENST00000392723.5:c.2692G>A ENSP00000376484.1:p.Val898Ile
ENST00000409503.5:c.2824G>A ENSP00000386836.1:p.Val942Ile
ENST00000491586.5:c.2719G>A ENSP00000418408.1:p.Val907Ile
ENST00000531094.5:c.2665G>A ENSP00000431259.1:p.Val889Ile
NM_001194937.1:c.2824G>A NP_001181866.1:p.Val942Ile
NM_001194938.1:c.2665G>A NP_001181867.1:p.Val889Ile
NM_015100.3:c.2851G>A NP_055915.2:p.Val951Ile
NM_145796.3:c.2566G>A NP_665739.3:p.Val856Ile
NM_207171.2:c.2692G>A NP_997054.1:p.Val898Ile
XM_005244999.1:c.2851G>A XP_005245056.1:p.Val951Ile
XM_005245000.3:c.2851G>A XP_005245057.1:p.Val951Ile
XM_005245001.1:c.2851G>A XP_005245058.1:p.Val951Ile
XM_005245005.1:c.2692G>A XP_005245062.1:p.Val898Ile
XM_005245006.3:c.2692G>A XP_005245063.1:p.Val898Ile
XM_011509330.1:c.2743G>A XP_011507632.1:p.Val915Ile
XM_011509331.1:c.2494G>A XP_011507633.1:p.Val832Ile
XM_005244999.3:c.2851G>A XP_005245056.1:p.Val951Ile
XM_005245000.4:c.2851G>A XP_005245057.1:p.Val951Ile
XM_005245001.2:c.2851G>A XP_005245058.1:p.Val951Ile
XM_005245005.2:c.2692G>A XP_005245062.1:p.Val898Ile
XM_005245006.5:c.2692G>A XP_005245063.1:p.Val898Ile
XM_017000744.1:c.2872G>A XP_016856233.1:p.Val958Ile
XM_017000745.2:c.2824G>A XP_016856234.1:p.Val942Ile
XM_017000746.1:c.2824G>A XP_016856235.1:p.Val942Ile
XM_017000748.1:c.2692G>A XP_016856237.1:p.Val898Ile
XM_017000749.1:c.2692G>A XP_016856238.1:p.Val898Ile
XM_024454305.1:c.2725G>A XP_024310073.1:p.Val909Ile
XM_024454306.1:c.1651G>A XP_024310074.1:p.Val551Ile
XR_002959801.1:n.2706G>A
NM_015100.4:c.2851G>A MANE Select NP_055915.2:p.Val951Ile
NM_001194937.2:c.2824G>A NP_001181866.1:p.Val942Ile
NM_001194938.2:c.2665G>A NP_001181867.1:p.Val889Ile
NM_145796.4:c.2566G>A NP_665739.3:p.Val856Ile