Canonical Allele Identifier: CA341950170
Gene: POGZ HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.151406442C>G , CM000663.2:g.151406442C>G GRCh38
NC_000001.10:g.151378918C>G , CM000663.1:g.151378918C>G GRCh37
NC_000001.9:g.149645542C>G NCBI36
NG_046601.1:g.58024G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000710270.1:c.2641G>C ENSP00000518163.1:p.Val881Leu
ENST00000392723.6:c.2434G>C ENSP00000376484.1:p.Val812Leu
ENST00000439756.2:c.2593G>C ENSP00000390156.2:p.Val865Leu
ENST00000703168.1:c.2614G>C ENSP00000515214.1:p.Val872Leu
ENST00000271715.7:c.2593G>C MANE Select ENSP00000271715.2:p.Val865Leu
ENST00000271715.6:c.2593G>C ENSP00000271715.2:p.Val865Leu
ENST00000358476.7:n.2741G>C
ENST00000368863.6:c.2308G>C ENSP00000357856.2:p.Val770Leu
ENST00000392723.5:c.2434G>C ENSP00000376484.1:p.Val812Leu
ENST00000409503.5:c.2566G>C ENSP00000386836.1:p.Val856Leu
ENST00000491586.5:c.2461G>C ENSP00000418408.1:p.Val821Leu
ENST00000529669.1:c.793G>C ENSP00000432295.1:p.Val265Leu
ENST00000531094.5:c.2407G>C ENSP00000431259.1:p.Val803Leu
NM_001194937.1:c.2566G>C NP_001181866.1:p.Val856Leu
NM_001194938.1:c.2407G>C NP_001181867.1:p.Val803Leu
NM_015100.3:c.2593G>C NP_055915.2:p.Val865Leu
NM_145796.3:c.2308G>C NP_665739.3:p.Val770Leu
NM_207171.2:c.2434G>C NP_997054.1:p.Val812Leu
XM_005244999.1:c.2593G>C XP_005245056.1:p.Val865Leu
XM_005245000.3:c.2593G>C XP_005245057.1:p.Val865Leu
XM_005245001.1:c.2593G>C XP_005245058.1:p.Val865Leu
XM_005245005.1:c.2434G>C XP_005245062.1:p.Val812Leu
XM_005245006.3:c.2434G>C XP_005245063.1:p.Val812Leu
XM_011509330.1:c.2485G>C XP_011507632.1:p.Val829Leu
XM_011509331.1:c.2236G>C XP_011507633.1:p.Val746Leu
XR_921760.1:n.2421G>C
XM_005244999.3:c.2593G>C XP_005245056.1:p.Val865Leu
XM_005245000.4:c.2593G>C XP_005245057.1:p.Val865Leu
XM_005245001.2:c.2593G>C XP_005245058.1:p.Val865Leu
XM_005245005.2:c.2434G>C XP_005245062.1:p.Val812Leu
XM_005245006.5:c.2434G>C XP_005245063.1:p.Val812Leu
XM_017000744.1:c.2614G>C XP_016856233.1:p.Val872Leu
XM_017000745.2:c.2566G>C XP_016856234.1:p.Val856Leu
XM_017000746.1:c.2566G>C XP_016856235.1:p.Val856Leu
XM_017000748.1:c.2434G>C XP_016856237.1:p.Val812Leu
XM_017000749.1:c.2434G>C XP_016856238.1:p.Val812Leu
XM_024454305.1:c.2467G>C XP_024310073.1:p.Val823Leu
XM_024454306.1:c.1393G>C XP_024310074.1:p.Val465Leu
XR_002959801.1:n.2448G>C
NM_015100.4:c.2593G>C MANE Select NP_055915.2:p.Val865Leu
NM_001194937.2:c.2566G>C NP_001181866.1:p.Val856Leu
NM_001194938.2:c.2407G>C NP_001181867.1:p.Val803Leu
NM_145796.4:c.2308G>C NP_665739.3:p.Val770Leu