Canonical Allele Identifier: CA341956131

Gene: POGZ

Linked Data

• dbSNP Id: rs1654055722
• gnomAD v4: 1-151408419-C-A
• MyVariant Identifiers: chr1:g.151380895C>A (hg19) ; chr1:g.151408419C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151408419C>A , CM000663.2:g.151408419C>A	GRCh38
NC_000001.10:g.151380895C>A , CM000663.1:g.151380895C>A	GRCh37
NC_000001.9:g.149647519C>A	NCBI36
NG_046601.1:g.56047G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000710270.1:c.2272G>T	ENSP00000518163.1:p.Val758Phe
ENST00000392723.6:c.2065G>T	ENSP00000376484.1:p.Val689Phe
ENST00000439756.2:c.2224G>T	ENSP00000390156.2:p.Val742Phe
ENST00000703168.1:c.2245G>T	ENSP00000515214.1:p.Val749Phe
ENST00000271715.7:c.2224G>T MANE Select	ENSP00000271715.2:p.Val742Phe
ENST00000271715.6:c.2224G>T	ENSP00000271715.2:p.Val742Phe
ENST00000358476.7:n.2093G>T
ENST00000368863.6:c.1939G>T	ENSP00000357856.2:p.Val647Phe
ENST00000392723.5:c.2065G>T	ENSP00000376484.1:p.Val689Phe
ENST00000409503.5:c.2197G>T	ENSP00000386836.1:p.Val733Phe
ENST00000491586.5:c.2092G>T	ENSP00000418408.1:p.Val698Phe
ENST00000492528.1:n.135G>T
ENST00000529669.1:c.424G>T	ENSP00000432295.1:p.Val142Phe
ENST00000531094.5:c.2038G>T	ENSP00000431259.1:p.Val680Phe
NM_001194937.1:c.2197G>T	NP_001181866.1:p.Val733Phe
NM_001194938.1:c.2038G>T	NP_001181867.1:p.Val680Phe
NM_015100.3:c.2224G>T	NP_055915.2:p.Val742Phe
NM_145796.3:c.1939G>T	NP_665739.3:p.Val647Phe
NM_207171.2:c.2065G>T	NP_997054.1:p.Val689Phe
XM_005244999.1:c.2224G>T	XP_005245056.1:p.Val742Phe
XM_005245000.3:c.2224G>T	XP_005245057.1:p.Val742Phe
XM_005245001.1:c.2224G>T	XP_005245058.1:p.Val742Phe
XM_005245005.1:c.2065G>T	XP_005245062.1:p.Val689Phe
XM_005245006.3:c.2065G>T	XP_005245063.1:p.Val689Phe
XM_011509330.1:c.2116G>T	XP_011507632.1:p.Val706Phe
XM_011509331.1:c.1867G>T	XP_011507633.1:p.Val623Phe
XR_921760.1:n.2063-179G>T
XM_005244999.3:c.2224G>T	XP_005245056.1:p.Val742Phe
XM_005245000.4:c.2224G>T	XP_005245057.1:p.Val742Phe
XM_005245001.2:c.2224G>T	XP_005245058.1:p.Val742Phe
XM_005245005.2:c.2065G>T	XP_005245062.1:p.Val689Phe
XM_005245006.5:c.2065G>T	XP_005245063.1:p.Val689Phe
XM_017000744.1:c.2245G>T	XP_016856233.1:p.Val749Phe
XM_017000745.2:c.2197G>T	XP_016856234.1:p.Val733Phe
XM_017000746.1:c.2197G>T	XP_016856235.1:p.Val733Phe
XM_017000748.1:c.2065G>T	XP_016856237.1:p.Val689Phe
XM_017000749.1:c.2065G>T	XP_016856238.1:p.Val689Phe
XM_024454305.1:c.2098G>T	XP_024310073.1:p.Val700Phe
XM_024454306.1:c.1024G>T	XP_024310074.1:p.Val342Phe
XR_002959801.1:n.2090-179G>T
NM_015100.4:c.2224G>T MANE Select	NP_055915.2:p.Val742Phe
NM_001194937.2:c.2197G>T	NP_001181866.1:p.Val733Phe
NM_001194938.2:c.2038G>T	NP_001181867.1:p.Val680Phe
NM_145796.4:c.1939G>T	NP_665739.3:p.Val647Phe