Canonical Allele Identifier: CA8261194

Gene: VPS53

Linked Data

• dbSNP Id: rs766975813
• ExAC: 17:436075 A / G
• gnomAD v2: 17-436075-A-G
• gnomAD v4: 17-532835-A-G
• MyVariant Identifiers: chr17:g.436075A>G (hg19) ; chr17:g.532835A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.532835A>G , CM000679.2:g.532835A>G	GRCh38
NC_000017.10:g.436075A>G , CM000679.1:g.436075A>G	GRCh37
NC_000017.9:g.382825A>G	NCBI36
NG_034190.1:g.187022T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291074.10:c.2005T>C	ENSP00000291074.5:p.Trp669Arg
ENST00000437048.7:c.2085+7T>C MANE Select	ENSP00000401435.2:n.2085+7T>C
ENST00000571805.6:c.2092T>C	ENSP00000459312.1:p.Trp698Arg
ENST00000679817.1:c.322T>C	ENSP00000505032.1:p.Trp108Arg
ENST00000680128.1:c.1888T>C	ENSP00000506159.1:p.Trp630Arg
ENST00000680465.1:c.2085+7T>C	ENSP00000505997.1:n.2085+7T>C
ENST00000680641.1:c.*3334+7T>C	ENSP00000505237.1:n.*3334+7T>C
ENST00000680872.1:c.*1211+7T>C	ENSP00000506605.1:n.*1211+7T>C
ENST00000681050.1:c.298+7T>C
ENST00000681096.1:c.1633T>C	ENSP00000506052.1:p.Trp545Arg
ENST00000681103.1:c.315+7T>C	ENSP00000505892.1:n.315+7T>C
ENST00000681160.1:c.1716+7T>C	ENSP00000504905.1:n.1716+7T>C
ENST00000681317.1:c.2015+4193T>C	ENSP00000505190.1:n.2015+4193T>C
ENST00000681478.1:c.*1912T>C	ENSP00000505041.1:n.*1912T>C
ENST00000681510.1:c.1935+7T>C	ENSP00000505594.1:n.1935+7T>C
ENST00000681600.1:n.1180+7T>C
ENST00000681661.1:c.*1066+7T>C	ENSP00000506596.1:n.*1066+7T>C
ENST00000681858.1:c.315+7T>C	ENSP00000505044.1:n.315+7T>C
ENST00000681917.1:c.1554+7T>C	ENSP00000505944.1:n.1554+7T>C
ENST00000681943.1:c.1803+7T>C	ENSP00000504889.1:n.1803+7T>C
ENST00000681946.1:c.*1066+7T>C	ENSP00000505563.1:n.*1066+7T>C
ENST00000291074.9:c.2005T>C	ENSP00000291074.5:p.Trp669Arg
ENST00000389040.9:c.1895T>C	ENSP00000373692.5:n.1895T>C
ENST00000401468.7:c.1261T>C	ENSP00000384294.3:p.Trp421Arg
ENST00000437048.6:c.2085+7T>C	ENSP00000401435.2:n.2085+7T>C
ENST00000570771.1:n.152+7T>C
ENST00000571805.5:c.2092T>C	ENSP00000459312.1:p.Trp698Arg
ENST00000573028.5:c.*1539T>C	ENSP00000458311.1:n.*1539T>C
ENST00000574029.5:c.207-15196T>C	ENSP00000459159.1:n.207-15196T>C
ENST00000576149.5:n.1855+7T>C
NM_001128159.2:c.2085+7T>C	NP_001121631.1:n.2085+7T>C
NM_018289.3:c.2005T>C	NP_060759.2:p.Trp669Arg
XM_011523953.1:c.1498T>C	XP_011522255.1:p.Trp500Arg
XR_934061.1:n.2382+7T>C
XR_934133.1:n.291-7554A>G
NM_001366253.1:c.2092T>C	NP_001353182.1:p.Trp698Arg
NM_001366254.1:c.1498T>C	NP_001353183.1:p.Trp500Arg
XM_017024817.2:c.1935+7T>C	XP_016880306.1:n.1935+7T>C
XM_017024818.1:c.1716+7T>C	XP_016880307.1:n.1716+7T>C
XR_001752553.2:n.2222+7T>C
XR_934061.3:n.2372+7T>C
NM_001128159.3:c.2085+7T>C MANE Select	NP_001121631.1:n.2085+7T>C
NM_001366253.2:c.2092T>C	NP_001353182.1:p.Trp698Arg
NM_001366254.2:c.1498T>C	NP_001353183.1:p.Trp500Arg
NM_018289.4:c.2005T>C	NP_060759.2:p.Trp669Arg