Canonical Allele Identifier: CA341947197

Gene: POGZ

Linked Data

• dbSNP Id: rs1168837028
• gnomAD v2: 1-151378551-C-T
• gnomAD v4: 1-151406075-C-T
• MyVariant Identifiers: chr1:g.151378551C>T (hg19) ; chr1:g.151406075C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151406075C>T , CM000663.2:g.151406075C>T	GRCh38
NC_000001.10:g.151378551C>T , CM000663.1:g.151378551C>T	GRCh37
NC_000001.9:g.149645175C>T	NCBI36
NG_046601.1:g.58391G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710270.1:c.3008G>A	ENSP00000518163.1:p.Cys1003Tyr
ENST00000392723.6:c.2801G>A	ENSP00000376484.1:p.Cys934Tyr
ENST00000439756.2:c.2960G>A	ENSP00000390156.2:p.Cys987Tyr
ENST00000703168.1:c.2981G>A	ENSP00000515214.1:p.Cys994Tyr
ENST00000271715.7:c.2960G>A MANE Select	ENSP00000271715.2:p.Cys987Tyr
ENST00000271715.6:c.2960G>A	ENSP00000271715.2:p.Cys987Tyr
ENST00000358476.7:n.3108G>A
ENST00000368863.6:c.2675G>A	ENSP00000357856.2:p.Cys892Tyr
ENST00000392723.5:c.2801G>A	ENSP00000376484.1:p.Cys934Tyr
ENST00000409503.5:c.2933G>A	ENSP00000386836.1:p.Cys978Tyr
ENST00000491586.5:c.2828G>A	ENSP00000418408.1:p.Cys943Tyr
ENST00000531094.5:c.2774G>A	ENSP00000431259.1:p.Cys925Tyr
NM_001194937.1:c.2933G>A	NP_001181866.1:p.Cys978Tyr
NM_001194938.1:c.2774G>A	NP_001181867.1:p.Cys925Tyr
NM_015100.3:c.2960G>A	NP_055915.2:p.Cys987Tyr
NM_145796.3:c.2675G>A	NP_665739.3:p.Cys892Tyr
NM_207171.2:c.2801G>A	NP_997054.1:p.Cys934Tyr
XM_005244999.1:c.2960G>A	XP_005245056.1:p.Cys987Tyr
XM_005245000.3:c.2960G>A	XP_005245057.1:p.Cys987Tyr
XM_005245001.1:c.2960G>A	XP_005245058.1:p.Cys987Tyr
XM_005245005.1:c.2801G>A	XP_005245062.1:p.Cys934Tyr
XM_005245006.3:c.2801G>A	XP_005245063.1:p.Cys934Tyr
XM_011509330.1:c.2852G>A	XP_011507632.1:p.Cys951Tyr
XM_011509331.1:c.2603G>A	XP_011507633.1:p.Cys868Tyr
XM_005244999.3:c.2960G>A	XP_005245056.1:p.Cys987Tyr
XM_005245000.4:c.2960G>A	XP_005245057.1:p.Cys987Tyr
XM_005245001.2:c.2960G>A	XP_005245058.1:p.Cys987Tyr
XM_005245005.2:c.2801G>A	XP_005245062.1:p.Cys934Tyr
XM_005245006.5:c.2801G>A	XP_005245063.1:p.Cys934Tyr
XM_017000744.1:c.2981G>A	XP_016856233.1:p.Cys994Tyr
XM_017000745.2:c.2933G>A	XP_016856234.1:p.Cys978Tyr
XM_017000746.1:c.2933G>A	XP_016856235.1:p.Cys978Tyr
XM_017000748.1:c.2801G>A	XP_016856237.1:p.Cys934Tyr
XM_017000749.1:c.2801G>A	XP_016856238.1:p.Cys934Tyr
XM_024454305.1:c.2834G>A	XP_024310073.1:p.Cys945Tyr
XM_024454306.1:c.1760G>A	XP_024310074.1:p.Cys587Tyr
XR_002959801.1:n.2815G>A
NM_015100.4:c.2960G>A MANE Select	NP_055915.2:p.Cys987Tyr
NM_001194937.2:c.2933G>A	NP_001181866.1:p.Cys978Tyr
NM_001194938.2:c.2774G>A	NP_001181867.1:p.Cys925Tyr
NM_145796.4:c.2675G>A	NP_665739.3:p.Cys892Tyr