Canonical Allele Identifier: CA341948482
Gene: POGZ HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.151406211C>A , CM000663.2:g.151406211C>A GRCh38
NC_000001.10:g.151378687C>A , CM000663.1:g.151378687C>A GRCh37
NC_000001.9:g.149645311C>A NCBI36
NG_046601.1:g.58255G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000710270.1:c.2872G>T ENSP00000518163.1:p.Val958Phe
ENST00000392723.6:c.2665G>T ENSP00000376484.1:p.Val889Phe
ENST00000439756.2:c.2824G>T ENSP00000390156.2:p.Val942Phe
ENST00000703168.1:c.2845G>T ENSP00000515214.1:p.Val949Phe
ENST00000271715.7:c.2824G>T MANE Select ENSP00000271715.2:p.Val942Phe
ENST00000271715.6:c.2824G>T ENSP00000271715.2:p.Val942Phe
ENST00000358476.7:n.2972G>T
ENST00000368863.6:c.2539G>T ENSP00000357856.2:p.Val847Phe
ENST00000392723.5:c.2665G>T ENSP00000376484.1:p.Val889Phe
ENST00000409503.5:c.2797G>T ENSP00000386836.1:p.Val933Phe
ENST00000491586.5:c.2692G>T ENSP00000418408.1:p.Val898Phe
ENST00000531094.5:c.2638G>T ENSP00000431259.1:p.Val880Phe
NM_001194937.1:c.2797G>T NP_001181866.1:p.Val933Phe
NM_001194938.1:c.2638G>T NP_001181867.1:p.Val880Phe
NM_015100.3:c.2824G>T NP_055915.2:p.Val942Phe
NM_145796.3:c.2539G>T NP_665739.3:p.Val847Phe
NM_207171.2:c.2665G>T NP_997054.1:p.Val889Phe
XM_005244999.1:c.2824G>T XP_005245056.1:p.Val942Phe
XM_005245000.3:c.2824G>T XP_005245057.1:p.Val942Phe
XM_005245001.1:c.2824G>T XP_005245058.1:p.Val942Phe
XM_005245005.1:c.2665G>T XP_005245062.1:p.Val889Phe
XM_005245006.3:c.2665G>T XP_005245063.1:p.Val889Phe
XM_011509330.1:c.2716G>T XP_011507632.1:p.Val906Phe
XM_011509331.1:c.2467G>T XP_011507633.1:p.Val823Phe
XM_005244999.3:c.2824G>T XP_005245056.1:p.Val942Phe
XM_005245000.4:c.2824G>T XP_005245057.1:p.Val942Phe
XM_005245001.2:c.2824G>T XP_005245058.1:p.Val942Phe
XM_005245005.2:c.2665G>T XP_005245062.1:p.Val889Phe
XM_005245006.5:c.2665G>T XP_005245063.1:p.Val889Phe
XM_017000744.1:c.2845G>T XP_016856233.1:p.Val949Phe
XM_017000745.2:c.2797G>T XP_016856234.1:p.Val933Phe
XM_017000746.1:c.2797G>T XP_016856235.1:p.Val933Phe
XM_017000748.1:c.2665G>T XP_016856237.1:p.Val889Phe
XM_017000749.1:c.2665G>T XP_016856238.1:p.Val889Phe
XM_024454305.1:c.2698G>T XP_024310073.1:p.Val900Phe
XM_024454306.1:c.1624G>T XP_024310074.1:p.Val542Phe
XR_002959801.1:n.2679G>T
NM_015100.4:c.2824G>T MANE Select NP_055915.2:p.Val942Phe
NM_001194937.2:c.2797G>T NP_001181866.1:p.Val933Phe
NM_001194938.2:c.2638G>T NP_001181867.1:p.Val880Phe
NM_145796.4:c.2539G>T NP_665739.3:p.Val847Phe