Canonical Allele Identifier: CA397489033

Gene: VPS53

Linked Data

• gnomAD v4: 17-562612-C-T
• MyVariant Identifiers: chr17:g.465852C>T (hg19) ; chr17:g.562612C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.562612C>T , CM000679.2:g.562612C>T	GRCh38
NC_000017.10:g.465852C>T , CM000679.1:g.465852C>T	GRCh37
NC_000017.9:g.412602C>T	NCBI36
NG_034190.1:g.157245G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291074.10:c.1360G>A	ENSP00000291074.5:p.Val454Met
ENST00000437048.7:c.1447G>A MANE Select	ENSP00000401435.2:p.Val483Met
ENST00000571805.6:c.1447G>A	ENSP00000459312.1:p.Val483Met
ENST00000572334.7:c.1078G>A	ENSP00000506188.1:p.Val360Met
ENST00000572607.2:n.277G>A
ENST00000679361.1:c.1447G>A	ENSP00000504978.1:p.Val483Met
ENST00000679959.1:c.980G>A	ENSP00000506180.1:n.980G>A
ENST00000680069.1:c.1447G>A	ENSP00000505145.1:p.Val483Met
ENST00000680114.1:c.973G>A	ENSP00000505327.1:p.Val325Met
ENST00000680128.1:c.1243G>A	ENSP00000506159.1:p.Val415Met
ENST00000680274.1:n.1009G>A
ENST00000680465.1:c.1447G>A	ENSP00000505997.1:p.Val483Met
ENST00000680641.1:c.*1267G>A	ENSP00000505237.1:n.*1267G>A
ENST00000680702.1:n.352G>A
ENST00000680704.1:c.1078G>A	ENSP00000506453.1:p.Val360Met
ENST00000680872.1:c.*573G>A	ENSP00000506605.1:n.*573G>A
ENST00000680944.1:n.842G>A
ENST00000680958.1:n.1354G>A
ENST00000681096.1:c.988G>A	ENSP00000506052.1:p.Val330Met
ENST00000681154.1:c.1360G>A	ENSP00000505866.1:p.Val454Met
ENST00000681160.1:c.1078G>A	ENSP00000504905.1:p.Val360Met
ENST00000681317.1:c.1447G>A	ENSP00000505190.1:p.Val483Met
ENST00000681478.1:c.*1267G>A	ENSP00000505041.1:n.*1267G>A
ENST00000681510.1:c.1297G>A	ENSP00000505594.1:p.Val433Met
ENST00000681600.1:n.542G>A
ENST00000681661.1:c.*428G>A	ENSP00000506596.1:n.*428G>A
ENST00000681830.1:c.996G>A	ENSP00000505322.1:n.996G>A
ENST00000681897.1:n.699G>A
ENST00000681902.1:c.1447G>A	ENSP00000505328.1:p.Val483Met
ENST00000681917.1:c.916G>A	ENSP00000505944.1:p.Val306Met
ENST00000681943.1:c.1313G>A	ENSP00000504889.1:n.1313G>A
ENST00000681946.1:c.*428G>A	ENSP00000505563.1:n.*428G>A
ENST00000291074.9:c.1360G>A	ENSP00000291074.5:p.Val454Met
ENST00000389040.9:c.1303G>A	ENSP00000373692.5:p.Val435Met
ENST00000401468.7:c.616G>A	ENSP00000384294.3:p.Val206Met
ENST00000437048.6:c.1447G>A	ENSP00000401435.2:p.Val483Met
ENST00000571805.5:c.1447G>A	ENSP00000459312.1:p.Val483Met
ENST00000572607.1:n.75G>A
ENST00000573028.5:c.*894G>A	ENSP00000458311.1:n.*894G>A
ENST00000574029.5:c.207-44973G>A	ENSP00000459159.1:n.207-44973G>A
ENST00000576149.5:n.1217G>A
NM_001128159.2:c.1447G>A	NP_001121631.1:p.Val483Met
NM_018289.3:c.1360G>A	NP_060759.2:p.Val454Met
XM_011523953.1:c.853G>A	XP_011522255.1:p.Val285Met
XR_934061.1:n.1744G>A
XR_934062.1:n.1499G>A
NM_001366253.1:c.1447G>A	NP_001353182.1:p.Val483Met
NM_001366254.1:c.853G>A	NP_001353183.1:p.Val285Met
XM_017024817.2:c.1297G>A	XP_016880306.1:p.Val433Met
XM_017024818.1:c.1078G>A	XP_016880307.1:p.Val360Met
XR_001752553.2:n.1584G>A
XR_934061.3:n.1734G>A
XR_934062.2:n.1489G>A
NM_001128159.3:c.1447G>A MANE Select	NP_001121631.1:p.Val483Met
NM_001366253.2:c.1447G>A	NP_001353182.1:p.Val483Met
NM_001366254.2:c.853G>A	NP_001353183.1:p.Val285Met
NM_018289.4:c.1360G>A	NP_060759.2:p.Val454Met