Canonical Allele Identifier: CA341948920

Gene: POGZ

Linked Data

• dbSNP Id: rs1336370871
• gnomAD v2: 1-151378735-C-G
• gnomAD v4: 1-151406259-C-G
• COSMIC: COSM1726060 ; COSM1726061
• MyVariant Identifiers: chr1:g.151378735C>G (hg19) ; chr1:g.151406259C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151406259C>G , CM000663.2:g.151406259C>G	GRCh38
NC_000001.10:g.151378735C>G , CM000663.1:g.151378735C>G	GRCh37
NC_000001.9:g.149645359C>G	NCBI36
NG_046601.1:g.58207G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710270.1:c.2824G>C	ENSP00000518163.1:p.Ala942Pro
ENST00000392723.6:c.2617G>C	ENSP00000376484.1:p.Ala873Pro
ENST00000439756.2:c.2776G>C	ENSP00000390156.2:p.Ala926Pro
ENST00000703168.1:c.2797G>C	ENSP00000515214.1:p.Ala933Pro
ENST00000271715.7:c.2776G>C MANE Select	ENSP00000271715.2:p.Ala926Pro
ENST00000271715.6:c.2776G>C	ENSP00000271715.2:p.Ala926Pro
ENST00000358476.7:n.2924G>C
ENST00000368863.6:c.2491G>C	ENSP00000357856.2:p.Ala831Pro
ENST00000392723.5:c.2617G>C	ENSP00000376484.1:p.Ala873Pro
ENST00000409503.5:c.2749G>C	ENSP00000386836.1:p.Ala917Pro
ENST00000491586.5:c.2644G>C	ENSP00000418408.1:p.Ala882Pro
ENST00000531094.5:c.2590G>C	ENSP00000431259.1:p.Ala864Pro
NM_001194937.1:c.2749G>C	NP_001181866.1:p.Ala917Pro
NM_001194938.1:c.2590G>C	NP_001181867.1:p.Ala864Pro
NM_015100.3:c.2776G>C	NP_055915.2:p.Ala926Pro
NM_145796.3:c.2491G>C	NP_665739.3:p.Ala831Pro
NM_207171.2:c.2617G>C	NP_997054.1:p.Ala873Pro
XM_005244999.1:c.2776G>C	XP_005245056.1:p.Ala926Pro
XM_005245000.3:c.2776G>C	XP_005245057.1:p.Ala926Pro
XM_005245001.1:c.2776G>C	XP_005245058.1:p.Ala926Pro
XM_005245005.1:c.2617G>C	XP_005245062.1:p.Ala873Pro
XM_005245006.3:c.2617G>C	XP_005245063.1:p.Ala873Pro
XM_011509330.1:c.2668G>C	XP_011507632.1:p.Ala890Pro
XM_011509331.1:c.2419G>C	XP_011507633.1:p.Ala807Pro
XM_005244999.3:c.2776G>C	XP_005245056.1:p.Ala926Pro
XM_005245000.4:c.2776G>C	XP_005245057.1:p.Ala926Pro
XM_005245001.2:c.2776G>C	XP_005245058.1:p.Ala926Pro
XM_005245005.2:c.2617G>C	XP_005245062.1:p.Ala873Pro
XM_005245006.5:c.2617G>C	XP_005245063.1:p.Ala873Pro
XM_017000744.1:c.2797G>C	XP_016856233.1:p.Ala933Pro
XM_017000745.2:c.2749G>C	XP_016856234.1:p.Ala917Pro
XM_017000746.1:c.2749G>C	XP_016856235.1:p.Ala917Pro
XM_017000748.1:c.2617G>C	XP_016856237.1:p.Ala873Pro
XM_017000749.1:c.2617G>C	XP_016856238.1:p.Ala873Pro
XM_024454305.1:c.2650G>C	XP_024310073.1:p.Ala884Pro
XM_024454306.1:c.1576G>C	XP_024310074.1:p.Ala526Pro
XR_002959801.1:n.2631G>C
NM_015100.4:c.2776G>C MANE Select	NP_055915.2:p.Ala926Pro
NM_001194937.2:c.2749G>C	NP_001181866.1:p.Ala917Pro
NM_001194938.2:c.2590G>C	NP_001181867.1:p.Ala864Pro
NM_145796.4:c.2491G>C	NP_665739.3:p.Ala831Pro