Canonical Allele Identifier: CA397488554

Gene: VPS53

Linked Data

• MyVariant Identifiers: chr17:g.465743T>C (hg19) ; chr17:g.562503T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.562503T>C , CM000679.2:g.562503T>C	GRCh38
NC_000017.10:g.465743T>C , CM000679.1:g.465743T>C	GRCh37
NC_000017.9:g.412493T>C	NCBI36
NG_034190.1:g.157354A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000291074.10:c.1469A>G	ENSP00000291074.5:p.Lys490Arg
ENST00000437048.7:c.1556A>G MANE Select	ENSP00000401435.2:p.Lys519Arg
ENST00000571805.6:c.1556A>G	ENSP00000459312.1:p.Lys519Arg
ENST00000572334.7:c.1187A>G	ENSP00000506188.1:p.Lys396Arg
ENST00000572607.2:n.386A>G
ENST00000679361.1:c.1556A>G	ENSP00000504978.1:p.Lys519Arg
ENST00000679959.1:c.1089A>G	ENSP00000506180.1:n.1089A>G
ENST00000680069.1:c.1556A>G	ENSP00000505145.1:p.Lys519Arg
ENST00000680114.1:c.1082A>G	ENSP00000505327.1:p.Lys361Arg
ENST00000680128.1:c.1352A>G	ENSP00000506159.1:p.Lys451Arg
ENST00000680274.1:n.1118A>G
ENST00000680465.1:c.1556A>G	ENSP00000505997.1:p.Lys519Arg
ENST00000680641.1:c.*1376A>G	ENSP00000505237.1:n.*1376A>G
ENST00000680702.1:n.461A>G
ENST00000680704.1:c.1187A>G	ENSP00000506453.1:p.Lys396Arg
ENST00000680872.1:c.*682A>G	ENSP00000506605.1:n.*682A>G
ENST00000680944.1:n.951A>G
ENST00000680958.1:n.1463A>G
ENST00000681096.1:c.1097A>G	ENSP00000506052.1:p.Lys366Arg
ENST00000681154.1:c.1469A>G	ENSP00000505866.1:p.Lys490Arg
ENST00000681160.1:c.1187A>G	ENSP00000504905.1:p.Lys396Arg
ENST00000681317.1:c.1556A>G	ENSP00000505190.1:p.Lys519Arg
ENST00000681478.1:c.*1376A>G	ENSP00000505041.1:n.*1376A>G
ENST00000681510.1:c.1406A>G	ENSP00000505594.1:p.Lys469Arg
ENST00000681600.1:n.651A>G
ENST00000681661.1:c.*537A>G	ENSP00000506596.1:n.*537A>G
ENST00000681830.1:c.1105A>G	ENSP00000505322.1:n.1105A>G
ENST00000681897.1:n.808A>G
ENST00000681902.1:c.1556A>G	ENSP00000505328.1:p.Lys519Arg
ENST00000681917.1:c.1025A>G	ENSP00000505944.1:p.Lys342Arg
ENST00000681943.1:c.1422A>G	ENSP00000504889.1:n.1422A>G
ENST00000681946.1:c.*537A>G	ENSP00000505563.1:n.*537A>G
ENST00000291074.9:c.1469A>G	ENSP00000291074.5:p.Lys490Arg
ENST00000389040.9:c.1412A>G	ENSP00000373692.5:p.Lys471Arg
ENST00000401468.7:c.725A>G	ENSP00000384294.3:p.Lys242Arg
ENST00000437048.6:c.1556A>G	ENSP00000401435.2:p.Lys519Arg
ENST00000571805.5:c.1556A>G	ENSP00000459312.1:p.Lys519Arg
ENST00000572607.1:n.184A>G
ENST00000573028.5:c.*1003A>G	ENSP00000458311.1:n.*1003A>G
ENST00000574029.5:c.207-44864A>G	ENSP00000459159.1:n.207-44864A>G
ENST00000576149.5:n.1326A>G
NM_001128159.2:c.1556A>G	NP_001121631.1:p.Lys519Arg
NM_018289.3:c.1469A>G	NP_060759.2:p.Lys490Arg
XM_011523953.1:c.962A>G	XP_011522255.1:p.Lys321Arg
XR_934061.1:n.1853A>G
XR_934062.1:n.1608A>G
NM_001366253.1:c.1556A>G	NP_001353182.1:p.Lys519Arg
NM_001366254.1:c.962A>G	NP_001353183.1:p.Lys321Arg
XM_017024817.2:c.1406A>G	XP_016880306.1:p.Lys469Arg
XM_017024818.1:c.1187A>G	XP_016880307.1:p.Lys396Arg
XR_001752553.2:n.1693A>G
XR_934061.3:n.1843A>G
XR_934062.2:n.1598A>G
NM_001128159.3:c.1556A>G MANE Select	NP_001121631.1:p.Lys519Arg
NM_001366253.2:c.1556A>G	NP_001353182.1:p.Lys519Arg
NM_001366254.2:c.962A>G	NP_001353183.1:p.Lys321Arg
NM_018289.4:c.1469A>G	NP_060759.2:p.Lys490Arg