Canonical Allele Identifier: CA29570968

Gene: POGZ

Linked Data

• dbSNP Id: rs188916910
• gnomAD v3: 1-151408323-A-T
• gnomAD v4: 1-151408323-A-T
• MyVariant Identifiers: chr1:g.151380799A>T (hg19) ; chr1:g.151408323A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151408323A>T , CM000663.2:g.151408323A>T	GRCh38
NC_000001.10:g.151380799A>T , CM000663.1:g.151380799A>T	GRCh37
NC_000001.9:g.149647423A>T	NCBI36
NG_046601.1:g.56143T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000710270.1:c.2283-83T>A	ENSP00000518163.1:n.2283-83T>A
ENST00000392723.6:c.2076-83T>A	ENSP00000376484.1:n.2076-83T>A
ENST00000439756.2:c.2235-83T>A	ENSP00000390156.2:n.2235-83T>A
ENST00000703168.1:c.2256-83T>A	ENSP00000515214.1:n.2256-83T>A
ENST00000271715.7:c.2235-83T>A MANE Select	ENSP00000271715.2:n.2235-83T>A
ENST00000271715.6:c.2235-83T>A	ENSP00000271715.2:n.2235-83T>A
ENST00000358476.7:n.2104-83T>A
ENST00000368863.6:c.1950-83T>A	ENSP00000357856.2:n.1950-83T>A
ENST00000392723.5:c.2076-83T>A	ENSP00000376484.1:n.2076-83T>A
ENST00000409503.5:c.2208-83T>A	ENSP00000386836.1:n.2208-83T>A
ENST00000491586.5:c.2103-83T>A	ENSP00000418408.1:n.2103-83T>A
ENST00000492528.1:n.231T>A
ENST00000529669.1:c.435-83T>A	ENSP00000432295.1:n.435-83T>A
ENST00000531094.5:c.2049-83T>A	ENSP00000431259.1:n.2049-83T>A
NM_001194937.1:c.2208-83T>A	NP_001181866.1:n.2208-83T>A
NM_001194938.1:c.2049-83T>A	NP_001181867.1:n.2049-83T>A
NM_015100.3:c.2235-83T>A	NP_055915.2:n.2235-83T>A
NM_145796.3:c.1950-83T>A	NP_665739.3:n.1950-83T>A
NM_207171.2:c.2076-83T>A	NP_997054.1:n.2076-83T>A
XM_005244999.1:c.2235-83T>A	XP_005245056.1:n.2235-83T>A
XM_005245000.3:c.2235-83T>A	XP_005245057.1:n.2235-83T>A
XM_005245001.1:c.2235-83T>A	XP_005245058.1:n.2235-83T>A
XM_005245005.1:c.2076-83T>A	XP_005245062.1:n.2076-83T>A
XM_005245006.3:c.2076-83T>A	XP_005245063.1:n.2076-83T>A
XM_011509330.1:c.2127-83T>A	XP_011507632.1:n.2127-83T>A
XM_011509331.1:c.1878-83T>A	XP_011507633.1:n.1878-83T>A
XR_921760.1:n.2063-83T>A
XM_005244999.3:c.2235-83T>A	XP_005245056.1:n.2235-83T>A
XM_005245000.4:c.2235-83T>A	XP_005245057.1:n.2235-83T>A
XM_005245001.2:c.2235-83T>A	XP_005245058.1:n.2235-83T>A
XM_005245005.2:c.2076-83T>A	XP_005245062.1:n.2076-83T>A
XM_005245006.5:c.2076-83T>A	XP_005245063.1:n.2076-83T>A
XM_017000744.1:c.2256-83T>A	XP_016856233.1:n.2256-83T>A
XM_017000745.2:c.2208-83T>A	XP_016856234.1:n.2208-83T>A
XM_017000746.1:c.2208-83T>A	XP_016856235.1:n.2208-83T>A
XM_017000748.1:c.2076-83T>A	XP_016856237.1:n.2076-83T>A
XM_017000749.1:c.2076-83T>A	XP_016856238.1:n.2076-83T>A
XM_024454305.1:c.2109-83T>A	XP_024310073.1:n.2109-83T>A
XM_024454306.1:c.1035-83T>A	XP_024310074.1:n.1035-83T>A
XR_002959801.1:n.2090-83T>A
NM_015100.4:c.2235-83T>A MANE Select	NP_055915.2:n.2235-83T>A
NM_001194937.2:c.2208-83T>A	NP_001181866.1:n.2208-83T>A
NM_001194938.2:c.2049-83T>A	NP_001181867.1:n.2049-83T>A
NM_145796.4:c.1950-83T>A	NP_665739.3:n.1950-83T>A