Canonical Allele Identifier: CA341949208
Gene: POGZ HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.151406297G>A , CM000663.2:g.151406297G>A GRCh38
NC_000001.10:g.151378773G>A , CM000663.1:g.151378773G>A GRCh37
NC_000001.9:g.149645397G>A NCBI36
NG_046601.1:g.58169C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000710270.1:c.2786C>T ENSP00000518163.1:p.Ser929Leu
ENST00000392723.6:c.2579C>T ENSP00000376484.1:p.Ser860Leu
ENST00000439756.2:c.2738C>T ENSP00000390156.2:p.Ser913Leu
ENST00000703168.1:c.2759C>T ENSP00000515214.1:p.Ser920Leu
ENST00000271715.7:c.2738C>T MANE Select ENSP00000271715.2:p.Ser913Leu
ENST00000271715.6:c.2738C>T ENSP00000271715.2:p.Ser913Leu
ENST00000358476.7:n.2886C>T
ENST00000368863.6:c.2453C>T ENSP00000357856.2:p.Ser818Leu
ENST00000392723.5:c.2579C>T ENSP00000376484.1:p.Ser860Leu
ENST00000409503.5:c.2711C>T ENSP00000386836.1:p.Ser904Leu
ENST00000491586.5:c.2606C>T ENSP00000418408.1:p.Ser869Leu
ENST00000529669.1:c.938C>T ENSP00000432295.1:p.Ser313Leu
ENST00000531094.5:c.2552C>T ENSP00000431259.1:p.Ser851Leu
NM_001194937.1:c.2711C>T NP_001181866.1:p.Ser904Leu
NM_001194938.1:c.2552C>T NP_001181867.1:p.Ser851Leu
NM_015100.3:c.2738C>T NP_055915.2:p.Ser913Leu
NM_145796.3:c.2453C>T NP_665739.3:p.Ser818Leu
NM_207171.2:c.2579C>T NP_997054.1:p.Ser860Leu
XM_005244999.1:c.2738C>T XP_005245056.1:p.Ser913Leu
XM_005245000.3:c.2738C>T XP_005245057.1:p.Ser913Leu
XM_005245001.1:c.2738C>T XP_005245058.1:p.Ser913Leu
XM_005245005.1:c.2579C>T XP_005245062.1:p.Ser860Leu
XM_005245006.3:c.2579C>T XP_005245063.1:p.Ser860Leu
XM_011509330.1:c.2630C>T XP_011507632.1:p.Ser877Leu
XM_011509331.1:c.2381C>T XP_011507633.1:p.Ser794Leu
XM_005244999.3:c.2738C>T XP_005245056.1:p.Ser913Leu
XM_005245000.4:c.2738C>T XP_005245057.1:p.Ser913Leu
XM_005245001.2:c.2738C>T XP_005245058.1:p.Ser913Leu
XM_005245005.2:c.2579C>T XP_005245062.1:p.Ser860Leu
XM_005245006.5:c.2579C>T XP_005245063.1:p.Ser860Leu
XM_017000744.1:c.2759C>T XP_016856233.1:p.Ser920Leu
XM_017000745.2:c.2711C>T XP_016856234.1:p.Ser904Leu
XM_017000746.1:c.2711C>T XP_016856235.1:p.Ser904Leu
XM_017000748.1:c.2579C>T XP_016856237.1:p.Ser860Leu
XM_017000749.1:c.2579C>T XP_016856238.1:p.Ser860Leu
XM_024454305.1:c.2612C>T XP_024310073.1:p.Ser871Leu
XM_024454306.1:c.1538C>T XP_024310074.1:p.Ser513Leu
XR_002959801.1:n.2593C>T
NM_015100.4:c.2738C>T MANE Select NP_055915.2:p.Ser913Leu
NM_001194937.2:c.2711C>T NP_001181866.1:p.Ser904Leu
NM_001194938.2:c.2552C>T NP_001181867.1:p.Ser851Leu
NM_145796.4:c.2453C>T NP_665739.3:p.Ser818Leu