Canonical Allele Identifier: CA8261365

Gene: VPS53

Linked Data

• dbSNP Id: rs760770498
• ExAC: 17:465694 A / G
• gnomAD v2: 17-465694-A-G
• gnomAD v4: 17-562454-A-G
• MyVariant Identifiers: chr17:g.465694A>G (hg19) ; chr17:g.562454A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.562454A>G , CM000679.2:g.562454A>G	GRCh38
NC_000017.10:g.465694A>G , CM000679.1:g.465694A>G	GRCh37
NC_000017.9:g.412444A>G	NCBI36
NG_034190.1:g.157403T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291074.10:c.1469+49T>C	ENSP00000291074.5:n.1469+49T>C
ENST00000437048.7:c.1556+49T>C MANE Select	ENSP00000401435.2:n.1556+49T>C
ENST00000571805.6:c.1556+49T>C	ENSP00000459312.1:n.1556+49T>C
ENST00000572334.7:c.1187+49T>C	ENSP00000506188.1:n.1187+49T>C
ENST00000572607.2:n.386+49T>C
ENST00000679361.1:c.1556+49T>C	ENSP00000504978.1:n.1556+49T>C
ENST00000679959.1:c.1089+49T>C	ENSP00000506180.1:n.1089+49T>C
ENST00000680069.1:c.1556+49T>C	ENSP00000505145.1:n.1556+49T>C
ENST00000680114.1:c.1082+49T>C	ENSP00000505327.1:n.1082+49T>C
ENST00000680128.1:c.1352+49T>C	ENSP00000506159.1:n.1352+49T>C
ENST00000680274.1:n.1118+49T>C
ENST00000680465.1:c.1556+49T>C	ENSP00000505997.1:n.1556+49T>C
ENST00000680641.1:c.*1376+49T>C	ENSP00000505237.1:n.*1376+49T>C
ENST00000680702.1:n.461+49T>C
ENST00000680704.1:c.1187+49T>C	ENSP00000506453.1:n.1187+49T>C
ENST00000680872.1:c.*682+49T>C	ENSP00000506605.1:n.*682+49T>C
ENST00000680944.1:n.951+49T>C
ENST00000680958.1:n.1463+49T>C
ENST00000681096.1:c.1097+49T>C	ENSP00000506052.1:n.1097+49T>C
ENST00000681154.1:c.1469+49T>C	ENSP00000505866.1:n.1469+49T>C
ENST00000681160.1:c.1187+49T>C	ENSP00000504905.1:n.1187+49T>C
ENST00000681317.1:c.1556+49T>C	ENSP00000505190.1:n.1556+49T>C
ENST00000681478.1:c.*1376+49T>C	ENSP00000505041.1:n.*1376+49T>C
ENST00000681510.1:c.1406+49T>C	ENSP00000505594.1:n.1406+49T>C
ENST00000681600.1:n.651+49T>C
ENST00000681661.1:c.*537+49T>C	ENSP00000506596.1:n.*537+49T>C
ENST00000681830.1:c.1105+49T>C	ENSP00000505322.1:n.1105+49T>C
ENST00000681897.1:n.808+49T>C
ENST00000681902.1:c.1556+49T>C	ENSP00000505328.1:n.1556+49T>C
ENST00000681917.1:c.1025+49T>C	ENSP00000505944.1:n.1025+49T>C
ENST00000681943.1:c.1422+49T>C	ENSP00000504889.1:n.1422+49T>C
ENST00000681946.1:c.*537+49T>C	ENSP00000505563.1:n.*537+49T>C
ENST00000291074.9:c.1469+49T>C	ENSP00000291074.5:n.1469+49T>C
ENST00000389040.9:c.1412+49T>C	ENSP00000373692.5:n.1412+49T>C
ENST00000401468.7:c.725+49T>C	ENSP00000384294.3:n.725+49T>C
ENST00000437048.6:c.1556+49T>C	ENSP00000401435.2:n.1556+49T>C
ENST00000571805.5:c.1556+49T>C	ENSP00000459312.1:n.1556+49T>C
ENST00000572607.1:n.184+49T>C
ENST00000573028.5:c.*1003+49T>C	ENSP00000458311.1:n.*1003+49T>C
ENST00000574029.5:c.207-44815T>C	ENSP00000459159.1:n.207-44815T>C
ENST00000576149.5:n.1326+49T>C
NM_001128159.2:c.1556+49T>C	NP_001121631.1:n.1556+49T>C
NM_018289.3:c.1469+49T>C	NP_060759.2:n.1469+49T>C
XM_011523953.1:c.962+49T>C	XP_011522255.1:n.962+49T>C
XR_934061.1:n.1853+49T>C
XR_934062.1:n.1608+49T>C
NM_001366253.1:c.1556+49T>C	NP_001353182.1:n.1556+49T>C
NM_001366254.1:c.962+49T>C	NP_001353183.1:n.962+49T>C
XM_017024817.2:c.1406+49T>C	XP_016880306.1:n.1406+49T>C
XM_017024818.1:c.1187+49T>C	XP_016880307.1:n.1187+49T>C
XR_001752553.2:n.1693+49T>C
XR_934061.3:n.1843+49T>C
XR_934062.2:n.1598+49T>C
NM_001128159.3:c.1556+49T>C MANE Select	NP_001121631.1:n.1556+49T>C
NM_001366253.2:c.1556+49T>C	NP_001353182.1:n.1556+49T>C
NM_001366254.2:c.962+49T>C	NP_001353183.1:n.962+49T>C
NM_018289.4:c.1469+49T>C	NP_060759.2:n.1469+49T>C