Canonical Allele Identifier: CA341946919

Gene: POGZ

Linked Data

• ClinVar Variation Id: 1798481
• ClinVar RCV Id: RCV002442295
• dbSNP Id: rs1553212545
• gnomAD v3: 1-151406046-G-C
• gnomAD v4: 1-151406046-G-C
• MyVariant Identifiers: chr1:g.151378522G>C (hg19) ; chr1:g.151406046G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151406046G>C , CM000663.2:g.151406046G>C	GRCh38
NC_000001.10:g.151378522G>C , CM000663.1:g.151378522G>C	GRCh37
NC_000001.9:g.149645146G>C	NCBI36
NG_046601.1:g.58420C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710270.1:c.3037C>G	ENSP00000518163.1:p.Arg1013Gly
ENST00000392723.6:c.2830C>G	ENSP00000376484.1:p.Arg944Gly
ENST00000439756.2:c.2989C>G	ENSP00000390156.2:p.Arg997Gly
ENST00000703168.1:c.3010C>G	ENSP00000515214.1:p.Arg1004Gly
ENST00000271715.7:c.2989C>G MANE Select	ENSP00000271715.2:p.Arg997Gly
ENST00000271715.6:c.2989C>G	ENSP00000271715.2:p.Arg997Gly
ENST00000358476.7:n.3137C>G
ENST00000368863.6:c.2704C>G	ENSP00000357856.2:p.Arg902Gly
ENST00000392723.5:c.2830C>G	ENSP00000376484.1:p.Arg944Gly
ENST00000409503.5:c.2962C>G	ENSP00000386836.1:p.Arg988Gly
ENST00000491586.5:c.2857C>G	ENSP00000418408.1:p.Arg953Gly
ENST00000531094.5:c.2803C>G	ENSP00000431259.1:p.Arg935Gly
NM_001194937.1:c.2962C>G	NP_001181866.1:p.Arg988Gly
NM_001194938.1:c.2803C>G	NP_001181867.1:p.Arg935Gly
NM_015100.3:c.2989C>G	NP_055915.2:p.Arg997Gly
NM_145796.3:c.2704C>G	NP_665739.3:p.Arg902Gly
NM_207171.2:c.2830C>G	NP_997054.1:p.Arg944Gly
XM_005244999.1:c.2989C>G	XP_005245056.1:p.Arg997Gly
XM_005245000.3:c.2989C>G	XP_005245057.1:p.Arg997Gly
XM_005245001.1:c.2989C>G	XP_005245058.1:p.Arg997Gly
XM_005245005.1:c.2830C>G	XP_005245062.1:p.Arg944Gly
XM_005245006.3:c.2830C>G	XP_005245063.1:p.Arg944Gly
XM_011509330.1:c.2881C>G	XP_011507632.1:p.Arg961Gly
XM_011509331.1:c.2632C>G	XP_011507633.1:p.Arg878Gly
XM_005244999.3:c.2989C>G	XP_005245056.1:p.Arg997Gly
XM_005245000.4:c.2989C>G	XP_005245057.1:p.Arg997Gly
XM_005245001.2:c.2989C>G	XP_005245058.1:p.Arg997Gly
XM_005245005.2:c.2830C>G	XP_005245062.1:p.Arg944Gly
XM_005245006.5:c.2830C>G	XP_005245063.1:p.Arg944Gly
XM_017000744.1:c.3010C>G	XP_016856233.1:p.Arg1004Gly
XM_017000745.2:c.2962C>G	XP_016856234.1:p.Arg988Gly
XM_017000746.1:c.2962C>G	XP_016856235.1:p.Arg988Gly
XM_017000748.1:c.2830C>G	XP_016856237.1:p.Arg944Gly
XM_017000749.1:c.2830C>G	XP_016856238.1:p.Arg944Gly
XM_024454305.1:c.2863C>G	XP_024310073.1:p.Arg955Gly
XM_024454306.1:c.1789C>G	XP_024310074.1:p.Arg597Gly
XR_002959801.1:n.2844C>G
NM_015100.4:c.2989C>G MANE Select	NP_055915.2:p.Arg997Gly
NM_001194937.2:c.2962C>G	NP_001181866.1:p.Arg988Gly
NM_001194938.2:c.2803C>G	NP_001181867.1:p.Arg935Gly
NM_145796.4:c.2704C>G	NP_665739.3:p.Arg902Gly