Canonical Allele Identifier: CA341950249

Gene: POGZ

Linked Data

• dbSNP Id: rs1653646161
• gnomAD v3: 1-151406460-C-T
• gnomAD v4: 1-151406460-C-T
• MyVariant Identifiers: chr1:g.151378936C>T (hg19) ; chr1:g.151406460C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151406460C>T , CM000663.2:g.151406460C>T	GRCh38
NC_000001.10:g.151378936C>T , CM000663.1:g.151378936C>T	GRCh37
NC_000001.9:g.149645560C>T	NCBI36
NG_046601.1:g.58006G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710270.1:c.2623G>A	ENSP00000518163.1:p.Gly875Ser
ENST00000392723.6:c.2416G>A	ENSP00000376484.1:p.Gly806Ser
ENST00000439756.2:c.2575G>A	ENSP00000390156.2:p.Gly859Ser
ENST00000703168.1:c.2596G>A	ENSP00000515214.1:p.Gly866Ser
ENST00000271715.7:c.2575G>A MANE Select	ENSP00000271715.2:p.Gly859Ser
ENST00000271715.6:c.2575G>A	ENSP00000271715.2:p.Gly859Ser
ENST00000358476.7:n.2723G>A
ENST00000368863.6:c.2290G>A	ENSP00000357856.2:p.Gly764Ser
ENST00000392723.5:c.2416G>A	ENSP00000376484.1:p.Gly806Ser
ENST00000409503.5:c.2548G>A	ENSP00000386836.1:p.Gly850Ser
ENST00000491586.5:c.2443G>A	ENSP00000418408.1:p.Gly815Ser
ENST00000529669.1:c.775G>A	ENSP00000432295.1:p.Gly259Ser
ENST00000531094.5:c.2389G>A	ENSP00000431259.1:p.Gly797Ser
NM_001194937.1:c.2548G>A	NP_001181866.1:p.Gly850Ser
NM_001194938.1:c.2389G>A	NP_001181867.1:p.Gly797Ser
NM_015100.3:c.2575G>A	NP_055915.2:p.Gly859Ser
NM_145796.3:c.2290G>A	NP_665739.3:p.Gly764Ser
NM_207171.2:c.2416G>A	NP_997054.1:p.Gly806Ser
XM_005244999.1:c.2575G>A	XP_005245056.1:p.Gly859Ser
XM_005245000.3:c.2575G>A	XP_005245057.1:p.Gly859Ser
XM_005245001.1:c.2575G>A	XP_005245058.1:p.Gly859Ser
XM_005245005.1:c.2416G>A	XP_005245062.1:p.Gly806Ser
XM_005245006.3:c.2416G>A	XP_005245063.1:p.Gly806Ser
XM_011509330.1:c.2467G>A	XP_011507632.1:p.Gly823Ser
XM_011509331.1:c.2218G>A	XP_011507633.1:p.Gly740Ser
XR_921760.1:n.2403G>A
XM_005244999.3:c.2575G>A	XP_005245056.1:p.Gly859Ser
XM_005245000.4:c.2575G>A	XP_005245057.1:p.Gly859Ser
XM_005245001.2:c.2575G>A	XP_005245058.1:p.Gly859Ser
XM_005245005.2:c.2416G>A	XP_005245062.1:p.Gly806Ser
XM_005245006.5:c.2416G>A	XP_005245063.1:p.Gly806Ser
XM_017000744.1:c.2596G>A	XP_016856233.1:p.Gly866Ser
XM_017000745.2:c.2548G>A	XP_016856234.1:p.Gly850Ser
XM_017000746.1:c.2548G>A	XP_016856235.1:p.Gly850Ser
XM_017000748.1:c.2416G>A	XP_016856237.1:p.Gly806Ser
XM_017000749.1:c.2416G>A	XP_016856238.1:p.Gly806Ser
XM_024454305.1:c.2449G>A	XP_024310073.1:p.Gly817Ser
XM_024454306.1:c.1375G>A	XP_024310074.1:p.Gly459Ser
XR_002959801.1:n.2430G>A
NM_015100.4:c.2575G>A MANE Select	NP_055915.2:p.Gly859Ser
NM_001194937.2:c.2548G>A	NP_001181866.1:p.Gly850Ser
NM_001194938.2:c.2389G>A	NP_001181867.1:p.Gly797Ser
NM_145796.4:c.2290G>A	NP_665739.3:p.Gly764Ser