Canonical Allele Identifier: CA397488543

Gene: VPS53

Linked Data

• dbSNP Id: rs1913109836
• gnomAD v3: 17-562502-C-A
• gnomAD v4: 17-562502-C-A
• MyVariant Identifiers: chr17:g.465742C>A (hg19) ; chr17:g.562502C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.562502C>A , CM000679.2:g.562502C>A	GRCh38
NC_000017.10:g.465742C>A , CM000679.1:g.465742C>A	GRCh37
NC_000017.9:g.412492C>A	NCBI36
NG_034190.1:g.157355G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000291074.10:c.1469+1G>T	ENSP00000291074.5:n.1469+1G>T
ENST00000437048.7:c.1556+1G>T MANE Select	ENSP00000401435.2:n.1556+1G>T
ENST00000571805.6:c.1556+1G>T	ENSP00000459312.1:n.1556+1G>T
ENST00000572334.7:c.1187+1G>T	ENSP00000506188.1:n.1187+1G>T
ENST00000572607.2:n.386+1G>T
ENST00000679361.1:c.1556+1G>T	ENSP00000504978.1:n.1556+1G>T
ENST00000679959.1:c.1089+1G>T	ENSP00000506180.1:n.1089+1G>T
ENST00000680069.1:c.1556+1G>T	ENSP00000505145.1:n.1556+1G>T
ENST00000680114.1:c.1082+1G>T	ENSP00000505327.1:n.1082+1G>T
ENST00000680128.1:c.1352+1G>T	ENSP00000506159.1:n.1352+1G>T
ENST00000680274.1:n.1118+1G>T
ENST00000680465.1:c.1556+1G>T	ENSP00000505997.1:n.1556+1G>T
ENST00000680641.1:c.*1376+1G>T	ENSP00000505237.1:n.*1376+1G>T
ENST00000680702.1:n.461+1G>T
ENST00000680704.1:c.1187+1G>T	ENSP00000506453.1:n.1187+1G>T
ENST00000680872.1:c.*682+1G>T	ENSP00000506605.1:n.*682+1G>T
ENST00000680944.1:n.951+1G>T
ENST00000680958.1:n.1463+1G>T
ENST00000681096.1:c.1097+1G>T	ENSP00000506052.1:n.1097+1G>T
ENST00000681154.1:c.1469+1G>T	ENSP00000505866.1:n.1469+1G>T
ENST00000681160.1:c.1187+1G>T	ENSP00000504905.1:n.1187+1G>T
ENST00000681317.1:c.1556+1G>T	ENSP00000505190.1:n.1556+1G>T
ENST00000681478.1:c.*1376+1G>T	ENSP00000505041.1:n.*1376+1G>T
ENST00000681510.1:c.1406+1G>T	ENSP00000505594.1:n.1406+1G>T
ENST00000681600.1:n.651+1G>T
ENST00000681661.1:c.*537+1G>T	ENSP00000506596.1:n.*537+1G>T
ENST00000681830.1:c.1105+1G>T	ENSP00000505322.1:n.1105+1G>T
ENST00000681897.1:n.808+1G>T
ENST00000681902.1:c.1556+1G>T	ENSP00000505328.1:n.1556+1G>T
ENST00000681917.1:c.1025+1G>T	ENSP00000505944.1:n.1025+1G>T
ENST00000681943.1:c.1422+1G>T	ENSP00000504889.1:n.1422+1G>T
ENST00000681946.1:c.*537+1G>T	ENSP00000505563.1:n.*537+1G>T
ENST00000291074.9:c.1469+1G>T	ENSP00000291074.5:n.1469+1G>T
ENST00000389040.9:c.1412+1G>T	ENSP00000373692.5:n.1412+1G>T
ENST00000401468.7:c.725+1G>T	ENSP00000384294.3:n.725+1G>T
ENST00000437048.6:c.1556+1G>T	ENSP00000401435.2:n.1556+1G>T
ENST00000571805.5:c.1556+1G>T	ENSP00000459312.1:n.1556+1G>T
ENST00000572607.1:n.184+1G>T
ENST00000573028.5:c.*1003+1G>T	ENSP00000458311.1:n.*1003+1G>T
ENST00000574029.5:c.207-44863G>T	ENSP00000459159.1:n.207-44863G>T
ENST00000576149.5:n.1326+1G>T
NM_001128159.2:c.1556+1G>T	NP_001121631.1:n.1556+1G>T
NM_018289.3:c.1469+1G>T	NP_060759.2:n.1469+1G>T
XM_011523953.1:c.962+1G>T	XP_011522255.1:n.962+1G>T
XR_934061.1:n.1853+1G>T
XR_934062.1:n.1608+1G>T
NM_001366253.1:c.1556+1G>T	NP_001353182.1:n.1556+1G>T
NM_001366254.1:c.962+1G>T	NP_001353183.1:n.962+1G>T
XM_017024817.2:c.1406+1G>T	XP_016880306.1:n.1406+1G>T
XM_017024818.1:c.1187+1G>T	XP_016880307.1:n.1187+1G>T
XR_001752553.2:n.1693+1G>T
XR_934061.3:n.1843+1G>T
XR_934062.2:n.1598+1G>T
NM_001128159.3:c.1556+1G>T MANE Select	NP_001121631.1:n.1556+1G>T
NM_001366253.2:c.1556+1G>T	NP_001353182.1:n.1556+1G>T
NM_001366254.2:c.962+1G>T	NP_001353183.1:n.962+1G>T
NM_018289.4:c.1469+1G>T	NP_060759.2:n.1469+1G>T