Canonical Allele Identifier: CA29569040

Gene: POGZ

Linked Data

• dbSNP Id: rs946631671
• gnomAD v3: 1-151405805-A-C
• gnomAD v4: 1-151405805-A-C
• MyVariant Identifiers: chr1:g.151378281A>C (hg19) ; chr1:g.151405805A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151405805A>C , CM000663.2:g.151405805A>C	GRCh38
NC_000001.10:g.151378281A>C , CM000663.1:g.151378281A>C	GRCh37
NC_000001.9:g.149644905A>C	NCBI36
NG_046601.1:g.58661T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710270.1:c.3278T>G	ENSP00000518163.1:p.Leu1093Arg
ENST00000392723.6:c.3071T>G	ENSP00000376484.1:p.Leu1024Arg
ENST00000439756.2:c.3230T>G	ENSP00000390156.2:p.Leu1077Arg
ENST00000703168.1:c.3251T>G	ENSP00000515214.1:p.Leu1084Arg
ENST00000271715.7:c.3230T>G MANE Select	ENSP00000271715.2:p.Leu1077Arg
ENST00000271715.6:c.3230T>G	ENSP00000271715.2:p.Leu1077Arg
ENST00000358476.7:n.3378T>G
ENST00000368863.6:c.2945T>G	ENSP00000357856.2:p.Leu982Arg
ENST00000392723.5:c.3071T>G	ENSP00000376484.1:p.Leu1024Arg
ENST00000409503.5:c.3203T>G	ENSP00000386836.1:p.Leu1068Arg
ENST00000491586.5:c.3098T>G	ENSP00000418408.1:p.Leu1033Arg
ENST00000531094.5:c.3044T>G	ENSP00000431259.1:p.Leu1015Arg
NM_001194937.1:c.3203T>G	NP_001181866.1:p.Leu1068Arg
NM_001194938.1:c.3044T>G	NP_001181867.1:p.Leu1015Arg
NM_015100.3:c.3230T>G	NP_055915.2:p.Leu1077Arg
NM_145796.3:c.2945T>G	NP_665739.3:p.Leu982Arg
NM_207171.2:c.3071T>G	NP_997054.1:p.Leu1024Arg
XM_005244999.1:c.3230T>G	XP_005245056.1:p.Leu1077Arg
XM_005245000.3:c.3230T>G	XP_005245057.1:p.Leu1077Arg
XM_005245001.1:c.3230T>G	XP_005245058.1:p.Leu1077Arg
XM_005245005.1:c.3071T>G	XP_005245062.1:p.Leu1024Arg
XM_005245006.3:c.3071T>G	XP_005245063.1:p.Leu1024Arg
XM_011509330.1:c.3122T>G	XP_011507632.1:p.Leu1041Arg
XM_011509331.1:c.2873T>G	XP_011507633.1:p.Leu958Arg
XM_005244999.3:c.3230T>G	XP_005245056.1:p.Leu1077Arg
XM_005245000.4:c.3230T>G	XP_005245057.1:p.Leu1077Arg
XM_005245001.2:c.3230T>G	XP_005245058.1:p.Leu1077Arg
XM_005245005.2:c.3071T>G	XP_005245062.1:p.Leu1024Arg
XM_005245006.5:c.3071T>G	XP_005245063.1:p.Leu1024Arg
XM_017000744.1:c.3251T>G	XP_016856233.1:p.Leu1084Arg
XM_017000745.2:c.3203T>G	XP_016856234.1:p.Leu1068Arg
XM_017000746.1:c.3203T>G	XP_016856235.1:p.Leu1068Arg
XM_017000748.1:c.3071T>G	XP_016856237.1:p.Leu1024Arg
XM_017000749.1:c.3071T>G	XP_016856238.1:p.Leu1024Arg
XM_024454305.1:c.3104T>G	XP_024310073.1:p.Leu1035Arg
XM_024454306.1:c.2030T>G	XP_024310074.1:p.Leu677Arg
XR_002959801.1:n.3085T>G
NM_015100.4:c.3230T>G MANE Select	NP_055915.2:p.Leu1077Arg
NM_001194937.2:c.3203T>G	NP_001181866.1:p.Leu1068Arg
NM_001194938.2:c.3044T>G	NP_001181867.1:p.Leu1015Arg
NM_145796.4:c.2945T>G	NP_665739.3:p.Leu982Arg