Canonical Allele Identifier: CA341956645

Gene: POGZ

Linked Data

• gnomAD v4: 1-151408496-G-A
• MyVariant Identifiers: chr1:g.151380972G>A (hg19) ; chr1:g.151408496G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151408496G>A , CM000663.2:g.151408496G>A	GRCh38
NC_000001.10:g.151380972G>A , CM000663.1:g.151380972G>A	GRCh37
NC_000001.9:g.149647596G>A	NCBI36
NG_046601.1:g.55970C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000710270.1:c.2195C>T	ENSP00000518163.1:p.Ala732Val
ENST00000392723.6:c.1988C>T	ENSP00000376484.1:p.Ala663Val
ENST00000439756.2:c.2147C>T	ENSP00000390156.2:p.Ala716Val
ENST00000703168.1:c.2168C>T	ENSP00000515214.1:p.Ala723Val
ENST00000271715.7:c.2147C>T MANE Select	ENSP00000271715.2:p.Ala716Val
ENST00000271715.6:c.2147C>T	ENSP00000271715.2:p.Ala716Val
ENST00000358476.7:n.2016C>T
ENST00000368863.6:c.1862C>T	ENSP00000357856.2:p.Ala621Val
ENST00000392723.5:c.1988C>T	ENSP00000376484.1:p.Ala663Val
ENST00000409503.5:c.2120C>T	ENSP00000386836.1:p.Ala707Val
ENST00000491586.5:c.2015C>T	ENSP00000418408.1:p.Ala672Val
ENST00000492528.1:n.58C>T
ENST00000529669.1:c.347C>T	ENSP00000432295.1:p.Ala116Val
ENST00000531094.5:c.1961C>T	ENSP00000431259.1:p.Ala654Val
NM_001194937.1:c.2120C>T	NP_001181866.1:p.Ala707Val
NM_001194938.1:c.1961C>T	NP_001181867.1:p.Ala654Val
NM_015100.3:c.2147C>T	NP_055915.2:p.Ala716Val
NM_145796.3:c.1862C>T	NP_665739.3:p.Ala621Val
NM_207171.2:c.1988C>T	NP_997054.1:p.Ala663Val
XM_005244999.1:c.2147C>T	XP_005245056.1:p.Ala716Val
XM_005245000.3:c.2147C>T	XP_005245057.1:p.Ala716Val
XM_005245001.1:c.2147C>T	XP_005245058.1:p.Ala716Val
XM_005245005.1:c.1988C>T	XP_005245062.1:p.Ala663Val
XM_005245006.3:c.1988C>T	XP_005245063.1:p.Ala663Val
XM_011509330.1:c.2039C>T	XP_011507632.1:p.Ala680Val
XM_011509331.1:c.1790C>T	XP_011507633.1:p.Ala597Val
XR_921760.1:n.2062+198C>T
XM_005244999.3:c.2147C>T	XP_005245056.1:p.Ala716Val
XM_005245000.4:c.2147C>T	XP_005245057.1:p.Ala716Val
XM_005245001.2:c.2147C>T	XP_005245058.1:p.Ala716Val
XM_005245005.2:c.1988C>T	XP_005245062.1:p.Ala663Val
XM_005245006.5:c.1988C>T	XP_005245063.1:p.Ala663Val
XM_017000744.1:c.2168C>T	XP_016856233.1:p.Ala723Val
XM_017000745.2:c.2120C>T	XP_016856234.1:p.Ala707Val
XM_017000746.1:c.2120C>T	XP_016856235.1:p.Ala707Val
XM_017000748.1:c.1988C>T	XP_016856237.1:p.Ala663Val
XM_017000749.1:c.1988C>T	XP_016856238.1:p.Ala663Val
XM_024454305.1:c.2021C>T	XP_024310073.1:p.Ala674Val
XM_024454306.1:c.947C>T	XP_024310074.1:p.Ala316Val
XR_002959801.1:n.2089+198C>T
NM_015100.4:c.2147C>T MANE Select	NP_055915.2:p.Ala716Val
NM_001194937.2:c.2120C>T	NP_001181866.1:p.Ala707Val
NM_001194938.2:c.1961C>T	NP_001181867.1:p.Ala654Val
NM_145796.4:c.1862C>T	NP_665739.3:p.Ala621Val