Canonical Allele Identifier: CA29590001

Gene: POGZ

Linked Data

• dbSNP Id: rs111818924
• gnomAD v4: 1-151430749-A-G
• MyVariant Identifiers: chr1:g.151403225A>G (hg19) ; chr1:g.151430749A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151430749A>G , CM000663.2:g.151430749A>G	GRCh38
NC_000001.10:g.151403225A>G , CM000663.1:g.151403225A>G	GRCh37
NC_000001.9:g.149669849A>G	NCBI36
NG_046601.1:g.33717T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710270.1:c.424T>C	ENSP00000518163.1:p.Leu142=
ENST00000392723.6:c.217T>C	ENSP00000376484.1:p.Leu73=
ENST00000439756.2:c.376T>C	ENSP00000390156.2:p.Leu126=
ENST00000703168.1:c.397T>C	ENSP00000515214.1:p.Leu133=
ENST00000703169.1:c.376T>C	ENSP00000515215.1:p.Leu126=
ENST00000271715.7:c.376T>C MANE Select	ENSP00000271715.2:p.Leu126=
ENST00000271715.6:c.376T>C	ENSP00000271715.2:p.Leu126=
ENST00000358476.7:n.245T>C
ENST00000368863.6:c.284-2336T>C	ENSP00000357856.2:n.284-2336T>C
ENST00000392723.5:c.217T>C	ENSP00000376484.1:p.Leu73=
ENST00000409503.5:c.376T>C	ENSP00000386836.1:p.Leu126=
ENST00000450842.1:c.217T>C	ENSP00000395332.1:p.Leu73=
ENST00000467287.5:n.254T>C
ENST00000485040.5:n.405T>C
ENST00000491586.5:c.217T>C	ENSP00000418408.1:p.Leu73=
ENST00000531094.5:c.217T>C	ENSP00000431259.1:p.Leu73=
ENST00000533351.5:c.376T>C	ENSP00000433637.1:p.Leu126=
ENST00000533461.5:c.376T>C	ENSP00000433934.1:p.Leu126=
NM_001194937.1:c.376T>C	NP_001181866.1:p.Leu126=
NM_001194938.1:c.217T>C	NP_001181867.1:p.Leu73=
NM_015100.3:c.376T>C	NP_055915.2:p.Leu126=
NM_145796.3:c.284-2336T>C	NP_665739.3:n.284-2336T>C
NM_207171.2:c.217T>C	NP_997054.1:p.Leu73=
XM_005244999.1:c.376T>C	XP_005245056.1:p.Leu126=
XM_005245000.3:c.376T>C	XP_005245057.1:p.Leu126=
XM_005245001.1:c.376T>C	XP_005245058.1:p.Leu126=
XM_005245005.1:c.217T>C	XP_005245062.1:p.Leu73=
XM_005245006.3:c.217T>C	XP_005245063.1:p.Leu73=
XM_011509330.1:c.268T>C	XP_011507632.1:p.Leu90=
XM_011509331.1:c.19T>C	XP_011507633.1:p.Leu7=
XR_921760.1:n.377T>C
XM_005244999.3:c.376T>C	XP_005245056.1:p.Leu126=
XM_005245000.4:c.376T>C	XP_005245057.1:p.Leu126=
XM_005245001.2:c.376T>C	XP_005245058.1:p.Leu126=
XM_005245005.2:c.217T>C	XP_005245062.1:p.Leu73=
XM_005245006.5:c.217T>C	XP_005245063.1:p.Leu73=
XM_017000744.1:c.397T>C	XP_016856233.1:p.Leu133=
XM_017000745.2:c.376T>C	XP_016856234.1:p.Leu126=
XM_017000746.1:c.376T>C	XP_016856235.1:p.Leu126=
XM_017000748.1:c.217T>C	XP_016856237.1:p.Leu73=
XM_017000749.1:c.217T>C	XP_016856238.1:p.Leu73=
XM_024454305.1:c.397T>C	XP_024310073.1:p.Leu133=
XM_024454306.1:c.-1907T>C	XP_024310074.1:n.-1907T>C
XR_002959801.1:n.404T>C
NM_015100.4:c.376T>C MANE Select	NP_055915.2:p.Leu126=
NM_001194937.2:c.376T>C	NP_001181866.1:p.Leu126=
NM_001194938.2:c.217T>C	NP_001181867.1:p.Leu73=
NM_145796.4:c.284-2336T>C	NP_665739.3:n.284-2336T>C