Canonical Allele Identifier: CA397489021

Gene: VPS53

Linked Data

• MyVariant Identifiers: chr17:g.465849G>A (hg19) ; chr17:g.562609G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.562609G>A , CM000679.2:g.562609G>A	GRCh38
NC_000017.10:g.465849G>A , CM000679.1:g.465849G>A	GRCh37
NC_000017.9:g.412599G>A	NCBI36
NG_034190.1:g.157248C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291074.10:c.1363C>T	ENSP00000291074.5:p.Gln455Ter
ENST00000437048.7:c.1450C>T MANE Select	ENSP00000401435.2:p.Gln484Ter
ENST00000571805.6:c.1450C>T	ENSP00000459312.1:p.Gln484Ter
ENST00000572334.7:c.1081C>T	ENSP00000506188.1:p.Gln361Ter
ENST00000572607.2:n.280C>T
ENST00000679361.1:c.1450C>T	ENSP00000504978.1:p.Gln484Ter
ENST00000679959.1:c.983C>T	ENSP00000506180.1:n.983C>T
ENST00000680069.1:c.1450C>T	ENSP00000505145.1:p.Gln484Ter
ENST00000680114.1:c.976C>T	ENSP00000505327.1:p.Gln326Ter
ENST00000680128.1:c.1246C>T	ENSP00000506159.1:p.Gln416Ter
ENST00000680274.1:n.1012C>T
ENST00000680465.1:c.1450C>T	ENSP00000505997.1:p.Gln484Ter
ENST00000680641.1:c.*1270C>T	ENSP00000505237.1:n.*1270C>T
ENST00000680702.1:n.355C>T
ENST00000680704.1:c.1081C>T	ENSP00000506453.1:p.Gln361Ter
ENST00000680872.1:c.*576C>T	ENSP00000506605.1:n.*576C>T
ENST00000680944.1:n.845C>T
ENST00000680958.1:n.1357C>T
ENST00000681096.1:c.991C>T	ENSP00000506052.1:p.Gln331Ter
ENST00000681154.1:c.1363C>T	ENSP00000505866.1:p.Gln455Ter
ENST00000681160.1:c.1081C>T	ENSP00000504905.1:p.Gln361Ter
ENST00000681317.1:c.1450C>T	ENSP00000505190.1:p.Gln484Ter
ENST00000681478.1:c.*1270C>T	ENSP00000505041.1:n.*1270C>T
ENST00000681510.1:c.1300C>T	ENSP00000505594.1:p.Gln434Ter
ENST00000681600.1:n.545C>T
ENST00000681661.1:c.*431C>T	ENSP00000506596.1:n.*431C>T
ENST00000681830.1:c.999C>T	ENSP00000505322.1:n.999C>T
ENST00000681897.1:n.702C>T
ENST00000681902.1:c.1450C>T	ENSP00000505328.1:p.Gln484Ter
ENST00000681917.1:c.919C>T	ENSP00000505944.1:p.Gln307Ter
ENST00000681943.1:c.1316C>T	ENSP00000504889.1:n.1316C>T
ENST00000681946.1:c.*431C>T	ENSP00000505563.1:n.*431C>T
ENST00000291074.9:c.1363C>T	ENSP00000291074.5:p.Gln455Ter
ENST00000389040.9:c.1306C>T	ENSP00000373692.5:p.Gln436Ter
ENST00000401468.7:c.619C>T	ENSP00000384294.3:p.Gln207Ter
ENST00000437048.6:c.1450C>T	ENSP00000401435.2:p.Gln484Ter
ENST00000571805.5:c.1450C>T	ENSP00000459312.1:p.Gln484Ter
ENST00000572607.1:n.78C>T
ENST00000573028.5:c.*897C>T	ENSP00000458311.1:n.*897C>T
ENST00000574029.5:c.207-44970C>T	ENSP00000459159.1:n.207-44970C>T
ENST00000576149.5:n.1220C>T
NM_001128159.2:c.1450C>T	NP_001121631.1:p.Gln484Ter
NM_018289.3:c.1363C>T	NP_060759.2:p.Gln455Ter
XM_011523953.1:c.856C>T	XP_011522255.1:p.Gln286Ter
XR_934061.1:n.1747C>T
XR_934062.1:n.1502C>T
NM_001366253.1:c.1450C>T	NP_001353182.1:p.Gln484Ter
NM_001366254.1:c.856C>T	NP_001353183.1:p.Gln286Ter
XM_017024817.2:c.1300C>T	XP_016880306.1:p.Gln434Ter
XM_017024818.1:c.1081C>T	XP_016880307.1:p.Gln361Ter
XR_001752553.2:n.1587C>T
XR_934061.3:n.1737C>T
XR_934062.2:n.1492C>T
NM_001128159.3:c.1450C>T MANE Select	NP_001121631.1:p.Gln484Ter
NM_001366253.2:c.1450C>T	NP_001353182.1:p.Gln484Ter
NM_001366254.2:c.856C>T	NP_001353183.1:p.Gln286Ter
NM_018289.4:c.1363C>T	NP_060759.2:p.Gln455Ter