Canonical Allele Identifier: CA341947549

Gene: POGZ

Linked Data

• ClinVar Variation Id: 620278
• ClinVar RCV Id: RCV000760642
• dbSNP Id: rs1557866540
• MyVariant Identifiers: chr1:g.151378597G>A (hg19) ; chr1:g.151406121G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151406121G>A , CM000663.2:g.151406121G>A	GRCh38
NC_000001.10:g.151378597G>A , CM000663.1:g.151378597G>A	GRCh37
NC_000001.9:g.149645221G>A	NCBI36
NG_046601.1:g.58345C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000710270.1:c.2962C>T	ENSP00000518163.1:p.Gln988Ter
ENST00000392723.6:c.2755C>T	ENSP00000376484.1:p.Gln919Ter
ENST00000439756.2:c.2914C>T	ENSP00000390156.2:p.Gln972Ter
ENST00000703168.1:c.2935C>T	ENSP00000515214.1:p.Gln979Ter
ENST00000271715.7:c.2914C>T MANE Select	ENSP00000271715.2:p.Gln972Ter
ENST00000271715.6:c.2914C>T	ENSP00000271715.2:p.Gln972Ter
ENST00000358476.7:n.3062C>T
ENST00000368863.6:c.2629C>T	ENSP00000357856.2:p.Gln877Ter
ENST00000392723.5:c.2755C>T	ENSP00000376484.1:p.Gln919Ter
ENST00000409503.5:c.2887C>T	ENSP00000386836.1:p.Gln963Ter
ENST00000491586.5:c.2782C>T	ENSP00000418408.1:p.Gln928Ter
ENST00000531094.5:c.2728C>T	ENSP00000431259.1:p.Gln910Ter
NM_001194937.1:c.2887C>T	NP_001181866.1:p.Gln963Ter
NM_001194938.1:c.2728C>T	NP_001181867.1:p.Gln910Ter
NM_015100.3:c.2914C>T	NP_055915.2:p.Gln972Ter
NM_145796.3:c.2629C>T	NP_665739.3:p.Gln877Ter
NM_207171.2:c.2755C>T	NP_997054.1:p.Gln919Ter
XM_005244999.1:c.2914C>T	XP_005245056.1:p.Gln972Ter
XM_005245000.3:c.2914C>T	XP_005245057.1:p.Gln972Ter
XM_005245001.1:c.2914C>T	XP_005245058.1:p.Gln972Ter
XM_005245005.1:c.2755C>T	XP_005245062.1:p.Gln919Ter
XM_005245006.3:c.2755C>T	XP_005245063.1:p.Gln919Ter
XM_011509330.1:c.2806C>T	XP_011507632.1:p.Gln936Ter
XM_011509331.1:c.2557C>T	XP_011507633.1:p.Gln853Ter
XM_005244999.3:c.2914C>T	XP_005245056.1:p.Gln972Ter
XM_005245000.4:c.2914C>T	XP_005245057.1:p.Gln972Ter
XM_005245001.2:c.2914C>T	XP_005245058.1:p.Gln972Ter
XM_005245005.2:c.2755C>T	XP_005245062.1:p.Gln919Ter
XM_005245006.5:c.2755C>T	XP_005245063.1:p.Gln919Ter
XM_017000744.1:c.2935C>T	XP_016856233.1:p.Gln979Ter
XM_017000745.2:c.2887C>T	XP_016856234.1:p.Gln963Ter
XM_017000746.1:c.2887C>T	XP_016856235.1:p.Gln963Ter
XM_017000748.1:c.2755C>T	XP_016856237.1:p.Gln919Ter
XM_017000749.1:c.2755C>T	XP_016856238.1:p.Gln919Ter
XM_024454305.1:c.2788C>T	XP_024310073.1:p.Gln930Ter
XM_024454306.1:c.1714C>T	XP_024310074.1:p.Gln572Ter
XR_002959801.1:n.2769C>T
NM_015100.4:c.2914C>T MANE Select	NP_055915.2:p.Gln972Ter
NM_001194937.2:c.2887C>T	NP_001181866.1:p.Gln963Ter
NM_001194938.2:c.2728C>T	NP_001181867.1:p.Gln910Ter
NM_145796.4:c.2629C>T	NP_665739.3:p.Gln877Ter