Canonical Allele Identifier: CA420909567

Gene: POGZ

Linked Data

• gnomAD v4: 1-151405921-C-T
• MyVariant Identifiers: chr1:g.151378397C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151405921C>T , CM000663.2:g.151405921C>T	GRCh38
NC_000001.10:g.151378397C>T , CM000663.1:g.151378397C>T	GRCh37
NC_000001.9:g.149645021C>T	NCBI36
NG_046601.1:g.58545G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000710270.1:c.3162G>A	ENSP00000518163.1:p.Gln1054=
ENST00000392723.6:c.2955G>A	ENSP00000376484.1:p.Gln985=
ENST00000439756.2:c.3114G>A	ENSP00000390156.2:p.Gln1038=
ENST00000703168.1:c.3135G>A	ENSP00000515214.1:p.Gln1045=
ENST00000271715.7:c.3114G>A MANE Select	ENSP00000271715.2:p.Gln1038=
ENST00000271715.6:c.3114G>A	ENSP00000271715.2:p.Gln1038=
ENST00000358476.7:n.3262G>A
ENST00000368863.6:c.2829G>A	ENSP00000357856.2:p.Gln943=
ENST00000392723.5:c.2955G>A	ENSP00000376484.1:p.Gln985=
ENST00000409503.5:c.3087G>A	ENSP00000386836.1:p.Gln1029=
ENST00000491586.5:c.2982G>A	ENSP00000418408.1:p.Gln994=
ENST00000531094.5:c.2928G>A	ENSP00000431259.1:p.Gln976=
NM_001194937.1:c.3087G>A	NP_001181866.1:p.Gln1029=
NM_001194938.1:c.2928G>A	NP_001181867.1:p.Gln976=
NM_015100.3:c.3114G>A	NP_055915.2:p.Gln1038=
NM_145796.3:c.2829G>A	NP_665739.3:p.Gln943=
NM_207171.2:c.2955G>A	NP_997054.1:p.Gln985=
XM_005244999.1:c.3114G>A	XP_005245056.1:p.Gln1038=
XM_005245000.3:c.3114G>A	XP_005245057.1:p.Gln1038=
XM_005245001.1:c.3114G>A	XP_005245058.1:p.Gln1038=
XM_005245005.1:c.2955G>A	XP_005245062.1:p.Gln985=
XM_005245006.3:c.2955G>A	XP_005245063.1:p.Gln985=
XM_011509330.1:c.3006G>A	XP_011507632.1:p.Gln1002=
XM_011509331.1:c.2757G>A	XP_011507633.1:p.Gln919=
XM_005244999.3:c.3114G>A	XP_005245056.1:p.Gln1038=
XM_005245000.4:c.3114G>A	XP_005245057.1:p.Gln1038=
XM_005245001.2:c.3114G>A	XP_005245058.1:p.Gln1038=
XM_005245005.2:c.2955G>A	XP_005245062.1:p.Gln985=
XM_005245006.5:c.2955G>A	XP_005245063.1:p.Gln985=
XM_017000744.1:c.3135G>A	XP_016856233.1:p.Gln1045=
XM_017000745.2:c.3087G>A	XP_016856234.1:p.Gln1029=
XM_017000746.1:c.3087G>A	XP_016856235.1:p.Gln1029=
XM_017000748.1:c.2955G>A	XP_016856237.1:p.Gln985=
XM_017000749.1:c.2955G>A	XP_016856238.1:p.Gln985=
XM_024454305.1:c.2988G>A	XP_024310073.1:p.Gln996=
XM_024454306.1:c.1914G>A	XP_024310074.1:p.Gln638=
XR_002959801.1:n.2969G>A
NM_015100.4:c.3114G>A MANE Select	NP_055915.2:p.Gln1038=
NM_001194937.2:c.3087G>A	NP_001181866.1:p.Gln1029=
NM_001194938.2:c.2928G>A	NP_001181867.1:p.Gln976=
NM_145796.4:c.2829G>A	NP_665739.3:p.Gln943=