Canonical Allele Identifier: CA1091032

Gene: POGZ

Linked Data

• ClinVar Variation Id: 2430493
• ClinVar RCV Id: RCV003129050
• dbSNP Id: rs200768728
• ExAC: 1:151378567 G / A
• gnomAD v2: 1-151378567-G-A
• gnomAD v3: 1-151406091-G-A
• gnomAD v4: 1-151406091-G-A
• MyVariant Identifiers: chr1:g.151378567G>A (hg19) ; chr1:g.151406091G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151406091G>A , CM000663.2:g.151406091G>A	GRCh38
NC_000001.10:g.151378567G>A , CM000663.1:g.151378567G>A	GRCh37
NC_000001.9:g.149645191G>A	NCBI36
NG_046601.1:g.58375C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710270.1:c.2992C>T	ENSP00000518163.1:p.Leu998=
ENST00000392723.6:c.2785C>T	ENSP00000376484.1:p.Leu929=
ENST00000439756.2:c.2944C>T	ENSP00000390156.2:p.Leu982=
ENST00000703168.1:c.2965C>T	ENSP00000515214.1:p.Leu989=
ENST00000271715.7:c.2944C>T MANE Select	ENSP00000271715.2:p.Leu982=
ENST00000271715.6:c.2944C>T	ENSP00000271715.2:p.Leu982=
ENST00000358476.7:n.3092C>T
ENST00000368863.6:c.2659C>T	ENSP00000357856.2:p.Leu887=
ENST00000392723.5:c.2785C>T	ENSP00000376484.1:p.Leu929=
ENST00000409503.5:c.2917C>T	ENSP00000386836.1:p.Leu973=
ENST00000491586.5:c.2812C>T	ENSP00000418408.1:p.Leu938=
ENST00000531094.5:c.2758C>T	ENSP00000431259.1:p.Leu920=
NM_001194937.1:c.2917C>T	NP_001181866.1:p.Leu973=
NM_001194938.1:c.2758C>T	NP_001181867.1:p.Leu920=
NM_015100.3:c.2944C>T	NP_055915.2:p.Leu982=
NM_145796.3:c.2659C>T	NP_665739.3:p.Leu887=
NM_207171.2:c.2785C>T	NP_997054.1:p.Leu929=
XM_005244999.1:c.2944C>T	XP_005245056.1:p.Leu982=
XM_005245000.3:c.2944C>T	XP_005245057.1:p.Leu982=
XM_005245001.1:c.2944C>T	XP_005245058.1:p.Leu982=
XM_005245005.1:c.2785C>T	XP_005245062.1:p.Leu929=
XM_005245006.3:c.2785C>T	XP_005245063.1:p.Leu929=
XM_011509330.1:c.2836C>T	XP_011507632.1:p.Leu946=
XM_011509331.1:c.2587C>T	XP_011507633.1:p.Leu863=
XM_005244999.3:c.2944C>T	XP_005245056.1:p.Leu982=
XM_005245000.4:c.2944C>T	XP_005245057.1:p.Leu982=
XM_005245001.2:c.2944C>T	XP_005245058.1:p.Leu982=
XM_005245005.2:c.2785C>T	XP_005245062.1:p.Leu929=
XM_005245006.5:c.2785C>T	XP_005245063.1:p.Leu929=
XM_017000744.1:c.2965C>T	XP_016856233.1:p.Leu989=
XM_017000745.2:c.2917C>T	XP_016856234.1:p.Leu973=
XM_017000746.1:c.2917C>T	XP_016856235.1:p.Leu973=
XM_017000748.1:c.2785C>T	XP_016856237.1:p.Leu929=
XM_017000749.1:c.2785C>T	XP_016856238.1:p.Leu929=
XM_024454305.1:c.2818C>T	XP_024310073.1:p.Leu940=
XM_024454306.1:c.1744C>T	XP_024310074.1:p.Leu582=
XR_002959801.1:n.2799C>T
NM_015100.4:c.2944C>T MANE Select	NP_055915.2:p.Leu982=
NM_001194937.2:c.2917C>T	NP_001181866.1:p.Leu973=
NM_001194938.2:c.2758C>T	NP_001181867.1:p.Leu920=
NM_145796.4:c.2659C>T	NP_665739.3:p.Leu887=