Canonical Allele Identifier: CA420753353
Gene: POGZ HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.151403301G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.151430825G>C , CM000663.2:g.151430825G>C GRCh38
NC_000001.10:g.151403301G>C , CM000663.1:g.151403301G>C GRCh37
NC_000001.9:g.149669925G>C NCBI36
NG_046601.1:g.33641C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000710270.1:c.348C>G ENSP00000518163.1:p.Val116=
ENST00000392723.6:c.141C>G ENSP00000376484.1:p.Val47=
ENST00000439756.2:c.300C>G ENSP00000390156.2:p.Val100=
ENST00000703168.1:c.321C>G ENSP00000515214.1:p.Val107=
ENST00000703169.1:c.300C>G ENSP00000515215.1:p.Val100=
ENST00000271715.7:c.300C>G MANE Select ENSP00000271715.2:p.Val100=
ENST00000271715.6:c.300C>G ENSP00000271715.2:p.Val100=
ENST00000358476.7:n.169C>G
ENST00000368863.6:c.284-2412C>G ENSP00000357856.2:n.284-2412C>G
ENST00000392723.5:c.141C>G ENSP00000376484.1:p.Val47=
ENST00000409503.5:c.300C>G ENSP00000386836.1:p.Val100=
ENST00000450842.1:c.141C>G ENSP00000395332.1:p.Val47=
ENST00000467287.5:n.178C>G
ENST00000485040.5:n.329C>G
ENST00000491586.5:c.141C>G ENSP00000418408.1:p.Val47=
ENST00000531094.5:c.141C>G ENSP00000431259.1:p.Val47=
ENST00000533351.5:c.300C>G ENSP00000433637.1:p.Val100=
ENST00000533461.5:c.300C>G ENSP00000433934.1:p.Val100=
NM_001194937.1:c.300C>G NP_001181866.1:p.Val100=
NM_001194938.1:c.141C>G NP_001181867.1:p.Val47=
NM_015100.3:c.300C>G NP_055915.2:p.Val100=
NM_145796.3:c.284-2412C>G NP_665739.3:n.284-2412C>G
NM_207171.2:c.141C>G NP_997054.1:p.Val47=
XM_005244999.1:c.300C>G XP_005245056.1:p.Val100=
XM_005245000.3:c.300C>G XP_005245057.1:p.Val100=
XM_005245001.1:c.300C>G XP_005245058.1:p.Val100=
XM_005245005.1:c.141C>G XP_005245062.1:p.Val47=
XM_005245006.3:c.141C>G XP_005245063.1:p.Val47=
XM_011509330.1:c.192C>G XP_011507632.1:p.Val64=
XM_011509331.1:c.-58C>G XP_011507633.1:n.-58C>G
XR_921760.1:n.301C>G
XM_005244999.3:c.300C>G XP_005245056.1:p.Val100=
XM_005245000.4:c.300C>G XP_005245057.1:p.Val100=
XM_005245001.2:c.300C>G XP_005245058.1:p.Val100=
XM_005245005.2:c.141C>G XP_005245062.1:p.Val47=
XM_005245006.5:c.141C>G XP_005245063.1:p.Val47=
XM_017000744.1:c.321C>G XP_016856233.1:p.Val107=
XM_017000745.2:c.300C>G XP_016856234.1:p.Val100=
XM_017000746.1:c.300C>G XP_016856235.1:p.Val100=
XM_017000748.1:c.141C>G XP_016856237.1:p.Val47=
XM_017000749.1:c.141C>G XP_016856238.1:p.Val47=
XM_024454305.1:c.321C>G XP_024310073.1:p.Val107=
XM_024454306.1:c.-1983C>G XP_024310074.1:n.-1983C>G
XR_002959801.1:n.328C>G
NM_015100.4:c.300C>G MANE Select NP_055915.2:p.Val100=
NM_001194937.2:c.300C>G NP_001181866.1:p.Val100=
NM_001194938.2:c.141C>G NP_001181867.1:p.Val47=
NM_145796.4:c.284-2412C>G NP_665739.3:n.284-2412C>G