Canonical Allele Identifier: CA1091046

Gene: POGZ

Linked Data

• dbSNP Id: rs762028805
• ExAC: 1:151378649 T / G
• gnomAD v2: 1-151378649-T-G
• MyVariant Identifiers: chr1:g.151378649T>G (hg19) ; chr1:g.151406173T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151406173T>G , CM000663.2:g.151406173T>G	GRCh38
NC_000001.10:g.151378649T>G , CM000663.1:g.151378649T>G	GRCh37
NC_000001.9:g.149645273T>G	NCBI36
NG_046601.1:g.58293A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710270.1:c.2910A>C	ENSP00000518163.1:p.Glu970Asp
ENST00000392723.6:c.2703A>C	ENSP00000376484.1:p.Glu901Asp
ENST00000439756.2:c.2862A>C	ENSP00000390156.2:p.Glu954Asp
ENST00000703168.1:c.2883A>C	ENSP00000515214.1:p.Glu961Asp
ENST00000271715.7:c.2862A>C MANE Select	ENSP00000271715.2:p.Glu954Asp
ENST00000271715.6:c.2862A>C	ENSP00000271715.2:p.Glu954Asp
ENST00000358476.7:n.3010A>C
ENST00000368863.6:c.2577A>C	ENSP00000357856.2:p.Glu859Asp
ENST00000392723.5:c.2703A>C	ENSP00000376484.1:p.Glu901Asp
ENST00000409503.5:c.2835A>C	ENSP00000386836.1:p.Glu945Asp
ENST00000491586.5:c.2730A>C	ENSP00000418408.1:p.Glu910Asp
ENST00000531094.5:c.2676A>C	ENSP00000431259.1:p.Glu892Asp
NM_001194937.1:c.2835A>C	NP_001181866.1:p.Glu945Asp
NM_001194938.1:c.2676A>C	NP_001181867.1:p.Glu892Asp
NM_015100.3:c.2862A>C	NP_055915.2:p.Glu954Asp
NM_145796.3:c.2577A>C	NP_665739.3:p.Glu859Asp
NM_207171.2:c.2703A>C	NP_997054.1:p.Glu901Asp
XM_005244999.1:c.2862A>C	XP_005245056.1:p.Glu954Asp
XM_005245000.3:c.2862A>C	XP_005245057.1:p.Glu954Asp
XM_005245001.1:c.2862A>C	XP_005245058.1:p.Glu954Asp
XM_005245005.1:c.2703A>C	XP_005245062.1:p.Glu901Asp
XM_005245006.3:c.2703A>C	XP_005245063.1:p.Glu901Asp
XM_011509330.1:c.2754A>C	XP_011507632.1:p.Glu918Asp
XM_011509331.1:c.2505A>C	XP_011507633.1:p.Glu835Asp
XM_005244999.3:c.2862A>C	XP_005245056.1:p.Glu954Asp
XM_005245000.4:c.2862A>C	XP_005245057.1:p.Glu954Asp
XM_005245001.2:c.2862A>C	XP_005245058.1:p.Glu954Asp
XM_005245005.2:c.2703A>C	XP_005245062.1:p.Glu901Asp
XM_005245006.5:c.2703A>C	XP_005245063.1:p.Glu901Asp
XM_017000744.1:c.2883A>C	XP_016856233.1:p.Glu961Asp
XM_017000745.2:c.2835A>C	XP_016856234.1:p.Glu945Asp
XM_017000746.1:c.2835A>C	XP_016856235.1:p.Glu945Asp
XM_017000748.1:c.2703A>C	XP_016856237.1:p.Glu901Asp
XM_017000749.1:c.2703A>C	XP_016856238.1:p.Glu901Asp
XM_024454305.1:c.2736A>C	XP_024310073.1:p.Glu912Asp
XM_024454306.1:c.1662A>C	XP_024310074.1:p.Glu554Asp
XR_002959801.1:n.2717A>C
NM_015100.4:c.2862A>C MANE Select	NP_055915.2:p.Glu954Asp
NM_001194937.2:c.2835A>C	NP_001181866.1:p.Glu945Asp
NM_001194938.2:c.2676A>C	NP_001181867.1:p.Glu892Asp
NM_145796.4:c.2577A>C	NP_665739.3:p.Glu859Asp