Canonical Allele Identifier: CA341982330

Gene: POGZ

Linked Data

• ClinVar Variation Id: 1803433
• ClinVar RCV Id: RCV002467103
• gnomAD v4: 1-151430737-G-C
• MyVariant Identifiers: chr1:g.151403213G>C (hg19) ; chr1:g.151430737G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151430737G>C , CM000663.2:g.151430737G>C	GRCh38
NC_000001.10:g.151403213G>C , CM000663.1:g.151403213G>C	GRCh37
NC_000001.9:g.149669837G>C	NCBI36
NG_046601.1:g.33729C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710270.1:c.436C>G	ENSP00000518163.1:p.Gln146Glu
ENST00000392723.6:c.229C>G	ENSP00000376484.1:p.Gln77Glu
ENST00000439756.2:c.388C>G	ENSP00000390156.2:p.Gln130Glu
ENST00000703168.1:c.409C>G	ENSP00000515214.1:p.Gln137Glu
ENST00000703169.1:c.388C>G	ENSP00000515215.1:p.Gln130Glu
ENST00000271715.7:c.388C>G MANE Select	ENSP00000271715.2:p.Gln130Glu
ENST00000271715.6:c.388C>G	ENSP00000271715.2:p.Gln130Glu
ENST00000358476.7:n.257C>G
ENST00000368863.6:c.284-2324C>G	ENSP00000357856.2:n.284-2324C>G
ENST00000392723.5:c.229C>G	ENSP00000376484.1:p.Gln77Glu
ENST00000409503.5:c.388C>G	ENSP00000386836.1:p.Gln130Glu
ENST00000450842.1:c.229C>G	ENSP00000395332.1:p.Gln77Glu
ENST00000467287.5:n.266C>G
ENST00000485040.5:n.417C>G
ENST00000491586.5:c.229C>G	ENSP00000418408.1:p.Gln77Glu
ENST00000531094.5:c.229C>G	ENSP00000431259.1:p.Gln77Glu
ENST00000533351.5:c.388C>G	ENSP00000433637.1:p.Gln130Glu
ENST00000533461.5:c.388C>G	ENSP00000433934.1:p.Gln130Glu
NM_001194937.1:c.388C>G	NP_001181866.1:p.Gln130Glu
NM_001194938.1:c.229C>G	NP_001181867.1:p.Gln77Glu
NM_015100.3:c.388C>G	NP_055915.2:p.Gln130Glu
NM_145796.3:c.284-2324C>G	NP_665739.3:n.284-2324C>G
NM_207171.2:c.229C>G	NP_997054.1:p.Gln77Glu
XM_005244999.1:c.388C>G	XP_005245056.1:p.Gln130Glu
XM_005245000.3:c.388C>G	XP_005245057.1:p.Gln130Glu
XM_005245001.1:c.388C>G	XP_005245058.1:p.Gln130Glu
XM_005245005.1:c.229C>G	XP_005245062.1:p.Gln77Glu
XM_005245006.3:c.229C>G	XP_005245063.1:p.Gln77Glu
XM_011509330.1:c.280C>G	XP_011507632.1:p.Gln94Glu
XM_011509331.1:c.31C>G	XP_011507633.1:p.Gln11Glu
XR_921760.1:n.389C>G
XM_005244999.3:c.388C>G	XP_005245056.1:p.Gln130Glu
XM_005245000.4:c.388C>G	XP_005245057.1:p.Gln130Glu
XM_005245001.2:c.388C>G	XP_005245058.1:p.Gln130Glu
XM_005245005.2:c.229C>G	XP_005245062.1:p.Gln77Glu
XM_005245006.5:c.229C>G	XP_005245063.1:p.Gln77Glu
XM_017000744.1:c.409C>G	XP_016856233.1:p.Gln137Glu
XM_017000745.2:c.388C>G	XP_016856234.1:p.Gln130Glu
XM_017000746.1:c.388C>G	XP_016856235.1:p.Gln130Glu
XM_017000748.1:c.229C>G	XP_016856237.1:p.Gln77Glu
XM_017000749.1:c.229C>G	XP_016856238.1:p.Gln77Glu
XM_024454305.1:c.409C>G	XP_024310073.1:p.Gln137Glu
XM_024454306.1:c.-1895C>G	XP_024310074.1:n.-1895C>G
XR_002959801.1:n.416C>G
NM_015100.4:c.388C>G MANE Select	NP_055915.2:p.Gln130Glu
NM_001194937.2:c.388C>G	NP_001181866.1:p.Gln130Glu
NM_001194938.2:c.229C>G	NP_001181867.1:p.Gln77Glu
NM_145796.4:c.284-2324C>G	NP_665739.3:n.284-2324C>G