Canonical Allele Identifier: CA397488650

Gene: VPS53

Linked Data

• MyVariant Identifiers: chr17:g.465767T>C (hg19) ; chr17:g.562527T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.562527T>C , CM000679.2:g.562527T>C	GRCh38
NC_000017.10:g.465767T>C , CM000679.1:g.465767T>C	GRCh37
NC_000017.9:g.412517T>C	NCBI36
NG_034190.1:g.157330A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291074.10:c.1445A>G	ENSP00000291074.5:p.Lys482Arg
ENST00000437048.7:c.1532A>G MANE Select	ENSP00000401435.2:p.Lys511Arg
ENST00000571805.6:c.1532A>G	ENSP00000459312.1:p.Lys511Arg
ENST00000572334.7:c.1163A>G	ENSP00000506188.1:p.Lys388Arg
ENST00000572607.2:n.362A>G
ENST00000679361.1:c.1532A>G	ENSP00000504978.1:p.Lys511Arg
ENST00000679959.1:c.1065A>G	ENSP00000506180.1:n.1065A>G
ENST00000680069.1:c.1532A>G	ENSP00000505145.1:p.Lys511Arg
ENST00000680114.1:c.1058A>G	ENSP00000505327.1:p.Lys353Arg
ENST00000680128.1:c.1328A>G	ENSP00000506159.1:p.Lys443Arg
ENST00000680274.1:n.1094A>G
ENST00000680465.1:c.1532A>G	ENSP00000505997.1:p.Lys511Arg
ENST00000680641.1:c.*1352A>G	ENSP00000505237.1:n.*1352A>G
ENST00000680702.1:n.437A>G
ENST00000680704.1:c.1163A>G	ENSP00000506453.1:p.Lys388Arg
ENST00000680872.1:c.*658A>G	ENSP00000506605.1:n.*658A>G
ENST00000680944.1:n.927A>G
ENST00000680958.1:n.1439A>G
ENST00000681096.1:c.1073A>G	ENSP00000506052.1:p.Lys358Arg
ENST00000681154.1:c.1445A>G	ENSP00000505866.1:p.Lys482Arg
ENST00000681160.1:c.1163A>G	ENSP00000504905.1:p.Lys388Arg
ENST00000681317.1:c.1532A>G	ENSP00000505190.1:p.Lys511Arg
ENST00000681478.1:c.*1352A>G	ENSP00000505041.1:n.*1352A>G
ENST00000681510.1:c.1382A>G	ENSP00000505594.1:p.Lys461Arg
ENST00000681600.1:n.627A>G
ENST00000681661.1:c.*513A>G	ENSP00000506596.1:n.*513A>G
ENST00000681830.1:c.1081A>G	ENSP00000505322.1:n.1081A>G
ENST00000681897.1:n.784A>G
ENST00000681902.1:c.1532A>G	ENSP00000505328.1:p.Lys511Arg
ENST00000681917.1:c.1001A>G	ENSP00000505944.1:p.Lys334Arg
ENST00000681943.1:c.1398A>G	ENSP00000504889.1:n.1398A>G
ENST00000681946.1:c.*513A>G	ENSP00000505563.1:n.*513A>G
ENST00000291074.9:c.1445A>G	ENSP00000291074.5:p.Lys482Arg
ENST00000389040.9:c.1388A>G	ENSP00000373692.5:p.Lys463Arg
ENST00000401468.7:c.701A>G	ENSP00000384294.3:p.Lys234Arg
ENST00000437048.6:c.1532A>G	ENSP00000401435.2:p.Lys511Arg
ENST00000571805.5:c.1532A>G	ENSP00000459312.1:p.Lys511Arg
ENST00000572607.1:n.160A>G
ENST00000573028.5:c.*979A>G	ENSP00000458311.1:n.*979A>G
ENST00000574029.5:c.207-44888A>G	ENSP00000459159.1:n.207-44888A>G
ENST00000576149.5:n.1302A>G
NM_001128159.2:c.1532A>G	NP_001121631.1:p.Lys511Arg
NM_018289.3:c.1445A>G	NP_060759.2:p.Lys482Arg
XM_011523953.1:c.938A>G	XP_011522255.1:p.Lys313Arg
XR_934061.1:n.1829A>G
XR_934062.1:n.1584A>G
NM_001366253.1:c.1532A>G	NP_001353182.1:p.Lys511Arg
NM_001366254.1:c.938A>G	NP_001353183.1:p.Lys313Arg
XM_017024817.2:c.1382A>G	XP_016880306.1:p.Lys461Arg
XM_017024818.1:c.1163A>G	XP_016880307.1:p.Lys388Arg
XR_001752553.2:n.1669A>G
XR_934061.3:n.1819A>G
XR_934062.2:n.1574A>G
NM_001128159.3:c.1532A>G MANE Select	NP_001121631.1:p.Lys511Arg
NM_001366253.2:c.1532A>G	NP_001353182.1:p.Lys511Arg
NM_001366254.2:c.938A>G	NP_001353183.1:p.Lys313Arg
NM_018289.4:c.1445A>G	NP_060759.2:p.Lys482Arg