Canonical Allele Identifier: CA1091662

Gene: POGZ

Linked Data

• dbSNP Id: rs766438960
• ExAC: 1:151403259 G / A
• gnomAD v2: 1-151403259-G-A
• gnomAD v3: 1-151430783-G-A
• gnomAD v4: 1-151430783-G-A
• COSMIC: COSM1168639 ; COSM1168640
• MyVariant Identifiers: chr1:g.151403259G>A (hg19) ; chr1:g.151430783G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151430783G>A , CM000663.2:g.151430783G>A	GRCh38
NC_000001.10:g.151403259G>A , CM000663.1:g.151403259G>A	GRCh37
NC_000001.9:g.149669883G>A	NCBI36
NG_046601.1:g.33683C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710270.1:c.390C>T	ENSP00000518163.1:p.Ala130=
ENST00000392723.6:c.183C>T	ENSP00000376484.1:p.Ala61=
ENST00000439756.2:c.342C>T	ENSP00000390156.2:p.Ala114=
ENST00000703168.1:c.363C>T	ENSP00000515214.1:p.Ala121=
ENST00000703169.1:c.342C>T	ENSP00000515215.1:p.Ala114=
ENST00000271715.7:c.342C>T MANE Select	ENSP00000271715.2:p.Ala114=
ENST00000271715.6:c.342C>T	ENSP00000271715.2:p.Ala114=
ENST00000358476.7:n.211C>T
ENST00000368863.6:c.284-2370C>T	ENSP00000357856.2:n.284-2370C>T
ENST00000392723.5:c.183C>T	ENSP00000376484.1:p.Ala61=
ENST00000409503.5:c.342C>T	ENSP00000386836.1:p.Ala114=
ENST00000450842.1:c.183C>T	ENSP00000395332.1:p.Ala61=
ENST00000467287.5:n.220C>T
ENST00000485040.5:n.371C>T
ENST00000491586.5:c.183C>T	ENSP00000418408.1:p.Ala61=
ENST00000531094.5:c.183C>T	ENSP00000431259.1:p.Ala61=
ENST00000533351.5:c.342C>T	ENSP00000433637.1:p.Ala114=
ENST00000533461.5:c.342C>T	ENSP00000433934.1:p.Ala114=
NM_001194937.1:c.342C>T	NP_001181866.1:p.Ala114=
NM_001194938.1:c.183C>T	NP_001181867.1:p.Ala61=
NM_015100.3:c.342C>T	NP_055915.2:p.Ala114=
NM_145796.3:c.284-2370C>T	NP_665739.3:n.284-2370C>T
NM_207171.2:c.183C>T	NP_997054.1:p.Ala61=
XM_005244999.1:c.342C>T	XP_005245056.1:p.Ala114=
XM_005245000.3:c.342C>T	XP_005245057.1:p.Ala114=
XM_005245001.1:c.342C>T	XP_005245058.1:p.Ala114=
XM_005245005.1:c.183C>T	XP_005245062.1:p.Ala61=
XM_005245006.3:c.183C>T	XP_005245063.1:p.Ala61=
XM_011509330.1:c.234C>T	XP_011507632.1:p.Ala78=
XM_011509331.1:c.-16C>T	XP_011507633.1:n.-16C>T
XR_921760.1:n.343C>T
XM_005244999.3:c.342C>T	XP_005245056.1:p.Ala114=
XM_005245000.4:c.342C>T	XP_005245057.1:p.Ala114=
XM_005245001.2:c.342C>T	XP_005245058.1:p.Ala114=
XM_005245005.2:c.183C>T	XP_005245062.1:p.Ala61=
XM_005245006.5:c.183C>T	XP_005245063.1:p.Ala61=
XM_017000744.1:c.363C>T	XP_016856233.1:p.Ala121=
XM_017000745.2:c.342C>T	XP_016856234.1:p.Ala114=
XM_017000746.1:c.342C>T	XP_016856235.1:p.Ala114=
XM_017000748.1:c.183C>T	XP_016856237.1:p.Ala61=
XM_017000749.1:c.183C>T	XP_016856238.1:p.Ala61=
XM_024454305.1:c.363C>T	XP_024310073.1:p.Ala121=
XM_024454306.1:c.-1941C>T	XP_024310074.1:n.-1941C>T
XR_002959801.1:n.370C>T
NM_015100.4:c.342C>T MANE Select	NP_055915.2:p.Ala114=
NM_001194937.2:c.342C>T	NP_001181866.1:p.Ala114=
NM_001194938.2:c.183C>T	NP_001181867.1:p.Ala61=
NM_145796.4:c.284-2370C>T	NP_665739.3:n.284-2370C>T