Canonical Allele Identifier: CA2479581148

Gene: POGZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151430776G= , CM000663.2:g.151430776G=	GRCh38
NC_000001.10:g.151403252G= , CM000663.1:g.151403252G=	GRCh37
NC_000001.9:g.149669876G=	NCBI36
NG_046601.1:g.33690C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710270.1:c.397C=	ENSP00000518163.1:p.Leu133=
ENST00000392723.6:c.190C=	ENSP00000376484.1:p.Leu64=
ENST00000439756.2:c.349C=	ENSP00000390156.2:p.Leu117=
ENST00000703168.1:c.370C=	ENSP00000515214.1:p.Leu124=
ENST00000703169.1:c.349C=	ENSP00000515215.1:p.Leu117=
ENST00000271715.7:c.349C= MANE Select	ENSP00000271715.2:p.Leu117=
ENST00000271715.6:c.349C=	ENSP00000271715.2:p.Leu117=
ENST00000358476.7:n.218C=
ENST00000368863.6:c.284-2363C=	ENSP00000357856.2:n.284-2363C=
ENST00000392723.5:c.190C=	ENSP00000376484.1:p.Leu64=
ENST00000409503.5:c.349C=	ENSP00000386836.1:p.Leu117=
ENST00000450842.1:c.190C=	ENSP00000395332.1:p.Leu64=
ENST00000467287.5:n.227C=
ENST00000485040.5:n.378C=
ENST00000491586.5:c.190C=	ENSP00000418408.1:p.Leu64=
ENST00000531094.5:c.190C=	ENSP00000431259.1:p.Leu64=
ENST00000533351.5:c.349C=	ENSP00000433637.1:p.Leu117=
ENST00000533461.5:c.349C=	ENSP00000433934.1:p.Leu117=
NM_001194937.1:c.349C=	NP_001181866.1:p.Leu117=
NM_001194938.1:c.190C=	NP_001181867.1:p.Leu64=
NM_015100.3:c.349C=	NP_055915.2:p.Leu117=
NM_145796.3:c.284-2363C=	NP_665739.3:n.284-2363C=
NM_207171.2:c.190C=	NP_997054.1:p.Leu64=
XM_005244999.1:c.349C=	XP_005245056.1:p.Leu117=
XM_005245000.3:c.349C=	XP_005245057.1:p.Leu117=
XM_005245001.1:c.349C=	XP_005245058.1:p.Leu117=
XM_005245005.1:c.190C=	XP_005245062.1:p.Leu64=
XM_005245006.3:c.190C=	XP_005245063.1:p.Leu64=
XM_011509330.1:c.241C=	XP_011507632.1:p.Leu81=
XM_011509331.1:c.-9C=	XP_011507633.1:n.-9C=
XR_921760.1:n.350C=
XM_005244999.3:c.349C=	XP_005245056.1:p.Leu117=
XM_005245000.4:c.349C=	XP_005245057.1:p.Leu117=
XM_005245001.2:c.349C=	XP_005245058.1:p.Leu117=
XM_005245005.2:c.190C=	XP_005245062.1:p.Leu64=
XM_005245006.5:c.190C=	XP_005245063.1:p.Leu64=
XM_017000744.1:c.370C=	XP_016856233.1:p.Leu124=
XM_017000745.2:c.349C=	XP_016856234.1:p.Leu117=
XM_017000746.1:c.349C=	XP_016856235.1:p.Leu117=
XM_017000748.1:c.190C=	XP_016856237.1:p.Leu64=
XM_017000749.1:c.190C=	XP_016856238.1:p.Leu64=
XM_024454305.1:c.370C=	XP_024310073.1:p.Leu124=
XM_024454306.1:c.-1934C=	XP_024310074.1:n.-1934C=
XR_002959801.1:n.377C=
NM_015100.4:c.349C= MANE Select	NP_055915.2:p.Leu117=
NM_001194937.2:c.349C=	NP_001181866.1:p.Leu117=
NM_001194938.2:c.190C=	NP_001181867.1:p.Leu64=
NM_145796.4:c.284-2363C=	NP_665739.3:n.284-2363C=