Canonical Allele Identifier: CA341956382

Gene: POGZ

Linked Data

• MyVariant Identifiers: chr1:g.151380933A>C (hg19) ; chr1:g.151408457A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151408457A>C , CM000663.2:g.151408457A>C	GRCh38
NC_000001.10:g.151380933A>C , CM000663.1:g.151380933A>C	GRCh37
NC_000001.9:g.149647557A>C	NCBI36
NG_046601.1:g.56009T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000710270.1:c.2234T>G	ENSP00000518163.1:p.Leu745Arg
ENST00000392723.6:c.2027T>G	ENSP00000376484.1:p.Leu676Arg
ENST00000439756.2:c.2186T>G	ENSP00000390156.2:p.Leu729Arg
ENST00000703168.1:c.2207T>G	ENSP00000515214.1:p.Leu736Arg
ENST00000271715.7:c.2186T>G MANE Select	ENSP00000271715.2:p.Leu729Arg
ENST00000271715.6:c.2186T>G	ENSP00000271715.2:p.Leu729Arg
ENST00000358476.7:n.2055T>G
ENST00000368863.6:c.1901T>G	ENSP00000357856.2:p.Leu634Arg
ENST00000392723.5:c.2027T>G	ENSP00000376484.1:p.Leu676Arg
ENST00000409503.5:c.2159T>G	ENSP00000386836.1:p.Leu720Arg
ENST00000491586.5:c.2054T>G	ENSP00000418408.1:p.Leu685Arg
ENST00000492528.1:n.97T>G
ENST00000529669.1:c.386T>G	ENSP00000432295.1:p.Leu129Arg
ENST00000531094.5:c.2000T>G	ENSP00000431259.1:p.Leu667Arg
NM_001194937.1:c.2159T>G	NP_001181866.1:p.Leu720Arg
NM_001194938.1:c.2000T>G	NP_001181867.1:p.Leu667Arg
NM_015100.3:c.2186T>G	NP_055915.2:p.Leu729Arg
NM_145796.3:c.1901T>G	NP_665739.3:p.Leu634Arg
NM_207171.2:c.2027T>G	NP_997054.1:p.Leu676Arg
XM_005244999.1:c.2186T>G	XP_005245056.1:p.Leu729Arg
XM_005245000.3:c.2186T>G	XP_005245057.1:p.Leu729Arg
XM_005245001.1:c.2186T>G	XP_005245058.1:p.Leu729Arg
XM_005245005.1:c.2027T>G	XP_005245062.1:p.Leu676Arg
XM_005245006.3:c.2027T>G	XP_005245063.1:p.Leu676Arg
XM_011509330.1:c.2078T>G	XP_011507632.1:p.Leu693Arg
XM_011509331.1:c.1829T>G	XP_011507633.1:p.Leu610Arg
XR_921760.1:n.2063-217T>G
XM_005244999.3:c.2186T>G	XP_005245056.1:p.Leu729Arg
XM_005245000.4:c.2186T>G	XP_005245057.1:p.Leu729Arg
XM_005245001.2:c.2186T>G	XP_005245058.1:p.Leu729Arg
XM_005245005.2:c.2027T>G	XP_005245062.1:p.Leu676Arg
XM_005245006.5:c.2027T>G	XP_005245063.1:p.Leu676Arg
XM_017000744.1:c.2207T>G	XP_016856233.1:p.Leu736Arg
XM_017000745.2:c.2159T>G	XP_016856234.1:p.Leu720Arg
XM_017000746.1:c.2159T>G	XP_016856235.1:p.Leu720Arg
XM_017000748.1:c.2027T>G	XP_016856237.1:p.Leu676Arg
XM_017000749.1:c.2027T>G	XP_016856238.1:p.Leu676Arg
XM_024454305.1:c.2060T>G	XP_024310073.1:p.Leu687Arg
XM_024454306.1:c.986T>G	XP_024310074.1:p.Leu329Arg
XR_002959801.1:n.2090-217T>G
NM_015100.4:c.2186T>G MANE Select	NP_055915.2:p.Leu729Arg
NM_001194937.2:c.2159T>G	NP_001181866.1:p.Leu720Arg
NM_001194938.2:c.2000T>G	NP_001181867.1:p.Leu667Arg
NM_145796.4:c.1901T>G	NP_665739.3:p.Leu634Arg