Canonical Allele Identifier: CA341950174

Gene: POGZ

Linked Data

• dbSNP Id: rs1653638466
• gnomAD v3: 1-151406442-C-T
• gnomAD v4: 1-151406442-C-T
• MyVariant Identifiers: chr1:g.151378918C>T (hg19) ; chr1:g.151406442C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151406442C>T , CM000663.2:g.151406442C>T	GRCh38
NC_000001.10:g.151378918C>T , CM000663.1:g.151378918C>T	GRCh37
NC_000001.9:g.149645542C>T	NCBI36
NG_046601.1:g.58024G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710270.1:c.2641G>A	ENSP00000518163.1:p.Val881Met
ENST00000392723.6:c.2434G>A	ENSP00000376484.1:p.Val812Met
ENST00000439756.2:c.2593G>A	ENSP00000390156.2:p.Val865Met
ENST00000703168.1:c.2614G>A	ENSP00000515214.1:p.Val872Met
ENST00000271715.7:c.2593G>A MANE Select	ENSP00000271715.2:p.Val865Met
ENST00000271715.6:c.2593G>A	ENSP00000271715.2:p.Val865Met
ENST00000358476.7:n.2741G>A
ENST00000368863.6:c.2308G>A	ENSP00000357856.2:p.Val770Met
ENST00000392723.5:c.2434G>A	ENSP00000376484.1:p.Val812Met
ENST00000409503.5:c.2566G>A	ENSP00000386836.1:p.Val856Met
ENST00000491586.5:c.2461G>A	ENSP00000418408.1:p.Val821Met
ENST00000529669.1:c.793G>A	ENSP00000432295.1:p.Val265Met
ENST00000531094.5:c.2407G>A	ENSP00000431259.1:p.Val803Met
NM_001194937.1:c.2566G>A	NP_001181866.1:p.Val856Met
NM_001194938.1:c.2407G>A	NP_001181867.1:p.Val803Met
NM_015100.3:c.2593G>A	NP_055915.2:p.Val865Met
NM_145796.3:c.2308G>A	NP_665739.3:p.Val770Met
NM_207171.2:c.2434G>A	NP_997054.1:p.Val812Met
XM_005244999.1:c.2593G>A	XP_005245056.1:p.Val865Met
XM_005245000.3:c.2593G>A	XP_005245057.1:p.Val865Met
XM_005245001.1:c.2593G>A	XP_005245058.1:p.Val865Met
XM_005245005.1:c.2434G>A	XP_005245062.1:p.Val812Met
XM_005245006.3:c.2434G>A	XP_005245063.1:p.Val812Met
XM_011509330.1:c.2485G>A	XP_011507632.1:p.Val829Met
XM_011509331.1:c.2236G>A	XP_011507633.1:p.Val746Met
XR_921760.1:n.2421G>A
XM_005244999.3:c.2593G>A	XP_005245056.1:p.Val865Met
XM_005245000.4:c.2593G>A	XP_005245057.1:p.Val865Met
XM_005245001.2:c.2593G>A	XP_005245058.1:p.Val865Met
XM_005245005.2:c.2434G>A	XP_005245062.1:p.Val812Met
XM_005245006.5:c.2434G>A	XP_005245063.1:p.Val812Met
XM_017000744.1:c.2614G>A	XP_016856233.1:p.Val872Met
XM_017000745.2:c.2566G>A	XP_016856234.1:p.Val856Met
XM_017000746.1:c.2566G>A	XP_016856235.1:p.Val856Met
XM_017000748.1:c.2434G>A	XP_016856237.1:p.Val812Met
XM_017000749.1:c.2434G>A	XP_016856238.1:p.Val812Met
XM_024454305.1:c.2467G>A	XP_024310073.1:p.Val823Met
XM_024454306.1:c.1393G>A	XP_024310074.1:p.Val465Met
XR_002959801.1:n.2448G>A
NM_015100.4:c.2593G>A MANE Select	NP_055915.2:p.Val865Met
NM_001194937.2:c.2566G>A	NP_001181866.1:p.Val856Met
NM_001194938.2:c.2407G>A	NP_001181867.1:p.Val803Met
NM_145796.4:c.2308G>A	NP_665739.3:p.Val770Met