Canonical Allele Identifier: CA8261191

Gene: VPS53

Linked Data

• ClinVar Variation Id: 2957872
• ClinVar RCV Id: RCV003811535
• dbSNP Id: rs765662547
• ExAC: 17:436070 C / T
• gnomAD v2: 17-436070-C-T
• gnomAD v3: 17-532830-C-T
• gnomAD v4: 17-532830-C-T
• MyVariant Identifiers: chr17:g.436070C>T (hg19) ; chr17:g.532830C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.532830C>T , CM000679.2:g.532830C>T	GRCh38
NC_000017.10:g.436070C>T , CM000679.1:g.436070C>T	GRCh37
NC_000017.9:g.382820C>T	NCBI36
NG_034190.1:g.187027G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291074.10:c.2010G>A	ENSP00000291074.5:p.Thr670=
ENST00000437048.7:c.2085+12G>A MANE Select	ENSP00000401435.2:n.2085+12G>A
ENST00000571805.6:c.2097G>A	ENSP00000459312.1:p.Thr699=
ENST00000679817.1:c.327G>A	ENSP00000505032.1:p.Thr109=
ENST00000680128.1:c.1893G>A	ENSP00000506159.1:p.Thr631=
ENST00000680465.1:c.2085+12G>A	ENSP00000505997.1:n.2085+12G>A
ENST00000680641.1:c.*3334+12G>A	ENSP00000505237.1:n.*3334+12G>A
ENST00000680872.1:c.*1211+12G>A	ENSP00000506605.1:n.*1211+12G>A
ENST00000681050.1:c.298+12G>A
ENST00000681096.1:c.1638G>A	ENSP00000506052.1:p.Thr546=
ENST00000681103.1:c.315+12G>A	ENSP00000505892.1:n.315+12G>A
ENST00000681160.1:c.1716+12G>A	ENSP00000504905.1:n.1716+12G>A
ENST00000681317.1:c.2015+4198G>A	ENSP00000505190.1:n.2015+4198G>A
ENST00000681478.1:c.*1917G>A	ENSP00000505041.1:n.*1917G>A
ENST00000681510.1:c.1935+12G>A	ENSP00000505594.1:n.1935+12G>A
ENST00000681600.1:n.1180+12G>A
ENST00000681661.1:c.*1066+12G>A	ENSP00000506596.1:n.*1066+12G>A
ENST00000681858.1:c.315+12G>A	ENSP00000505044.1:n.315+12G>A
ENST00000681917.1:c.1554+12G>A	ENSP00000505944.1:n.1554+12G>A
ENST00000681943.1:c.1803+12G>A	ENSP00000504889.1:n.1803+12G>A
ENST00000681946.1:c.*1066+12G>A	ENSP00000505563.1:n.*1066+12G>A
ENST00000291074.9:c.2010G>A	ENSP00000291074.5:p.Thr670=
ENST00000389040.9:c.1900G>A	ENSP00000373692.5:n.1900G>A
ENST00000401468.7:c.1266G>A	ENSP00000384294.3:p.Thr422=
ENST00000437048.6:c.2085+12G>A	ENSP00000401435.2:n.2085+12G>A
ENST00000570771.1:n.152+12G>A
ENST00000571805.5:c.2097G>A	ENSP00000459312.1:p.Thr699=
ENST00000573028.5:c.*1544G>A	ENSP00000458311.1:n.*1544G>A
ENST00000574029.5:c.207-15191G>A	ENSP00000459159.1:n.207-15191G>A
ENST00000576149.5:n.1855+12G>A
NM_001128159.2:c.2085+12G>A	NP_001121631.1:n.2085+12G>A
NM_018289.3:c.2010G>A	NP_060759.2:p.Thr670=
XM_011523953.1:c.1503G>A	XP_011522255.1:p.Thr501=
XR_934061.1:n.2382+12G>A
XR_934133.1:n.291-7559C>T
NM_001366253.1:c.2097G>A	NP_001353182.1:p.Thr699=
NM_001366254.1:c.1503G>A	NP_001353183.1:p.Thr501=
XM_017024817.2:c.1935+12G>A	XP_016880306.1:n.1935+12G>A
XM_017024818.1:c.1716+12G>A	XP_016880307.1:n.1716+12G>A
XR_001752553.2:n.2222+12G>A
XR_934061.3:n.2372+12G>A
NM_001128159.3:c.2085+12G>A MANE Select	NP_001121631.1:n.2085+12G>A
NM_001366253.2:c.2097G>A	NP_001353182.1:p.Thr699=
NM_001366254.2:c.1503G>A	NP_001353183.1:p.Thr501=
NM_018289.4:c.2010G>A	NP_060759.2:p.Thr670=