Canonical Allele Identifier: CA397489012

Gene: VPS53

Linked Data

• MyVariant Identifiers: chr17:g.465848T>A (hg19) ; chr17:g.562608T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.562608T>A , CM000679.2:g.562608T>A	GRCh38
NC_000017.10:g.465848T>A , CM000679.1:g.465848T>A	GRCh37
NC_000017.9:g.412598T>A	NCBI36
NG_034190.1:g.157249A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291074.10:c.1364A>T	ENSP00000291074.5:p.Gln455Leu
ENST00000437048.7:c.1451A>T MANE Select	ENSP00000401435.2:p.Gln484Leu
ENST00000571805.6:c.1451A>T	ENSP00000459312.1:p.Gln484Leu
ENST00000572334.7:c.1082A>T	ENSP00000506188.1:p.Gln361Leu
ENST00000572607.2:n.281A>T
ENST00000679361.1:c.1451A>T	ENSP00000504978.1:p.Gln484Leu
ENST00000679959.1:c.984A>T	ENSP00000506180.1:n.984A>T
ENST00000680069.1:c.1451A>T	ENSP00000505145.1:p.Gln484Leu
ENST00000680114.1:c.977A>T	ENSP00000505327.1:p.Gln326Leu
ENST00000680128.1:c.1247A>T	ENSP00000506159.1:p.Gln416Leu
ENST00000680274.1:n.1013A>T
ENST00000680465.1:c.1451A>T	ENSP00000505997.1:p.Gln484Leu
ENST00000680641.1:c.*1271A>T	ENSP00000505237.1:n.*1271A>T
ENST00000680702.1:n.356A>T
ENST00000680704.1:c.1082A>T	ENSP00000506453.1:p.Gln361Leu
ENST00000680872.1:c.*577A>T	ENSP00000506605.1:n.*577A>T
ENST00000680944.1:n.846A>T
ENST00000680958.1:n.1358A>T
ENST00000681096.1:c.992A>T	ENSP00000506052.1:p.Gln331Leu
ENST00000681154.1:c.1364A>T	ENSP00000505866.1:p.Gln455Leu
ENST00000681160.1:c.1082A>T	ENSP00000504905.1:p.Gln361Leu
ENST00000681317.1:c.1451A>T	ENSP00000505190.1:p.Gln484Leu
ENST00000681478.1:c.*1271A>T	ENSP00000505041.1:n.*1271A>T
ENST00000681510.1:c.1301A>T	ENSP00000505594.1:p.Gln434Leu
ENST00000681600.1:n.546A>T
ENST00000681661.1:c.*432A>T	ENSP00000506596.1:n.*432A>T
ENST00000681830.1:c.1000A>T	ENSP00000505322.1:n.1000A>T
ENST00000681897.1:n.703A>T
ENST00000681902.1:c.1451A>T	ENSP00000505328.1:p.Gln484Leu
ENST00000681917.1:c.920A>T	ENSP00000505944.1:p.Gln307Leu
ENST00000681943.1:c.1317A>T	ENSP00000504889.1:n.1317A>T
ENST00000681946.1:c.*432A>T	ENSP00000505563.1:n.*432A>T
ENST00000291074.9:c.1364A>T	ENSP00000291074.5:p.Gln455Leu
ENST00000389040.9:c.1307A>T	ENSP00000373692.5:p.Gln436Leu
ENST00000401468.7:c.620A>T	ENSP00000384294.3:p.Gln207Leu
ENST00000437048.6:c.1451A>T	ENSP00000401435.2:p.Gln484Leu
ENST00000571805.5:c.1451A>T	ENSP00000459312.1:p.Gln484Leu
ENST00000572607.1:n.79A>T
ENST00000573028.5:c.*898A>T	ENSP00000458311.1:n.*898A>T
ENST00000574029.5:c.207-44969A>T	ENSP00000459159.1:n.207-44969A>T
ENST00000576149.5:n.1221A>T
NM_001128159.2:c.1451A>T	NP_001121631.1:p.Gln484Leu
NM_018289.3:c.1364A>T	NP_060759.2:p.Gln455Leu
XM_011523953.1:c.857A>T	XP_011522255.1:p.Gln286Leu
XR_934061.1:n.1748A>T
XR_934062.1:n.1503A>T
NM_001366253.1:c.1451A>T	NP_001353182.1:p.Gln484Leu
NM_001366254.1:c.857A>T	NP_001353183.1:p.Gln286Leu
XM_017024817.2:c.1301A>T	XP_016880306.1:p.Gln434Leu
XM_017024818.1:c.1082A>T	XP_016880307.1:p.Gln361Leu
XR_001752553.2:n.1588A>T
XR_934061.3:n.1738A>T
XR_934062.2:n.1493A>T
NM_001128159.3:c.1451A>T MANE Select	NP_001121631.1:p.Gln484Leu
NM_001366253.2:c.1451A>T	NP_001353182.1:p.Gln484Leu
NM_001366254.2:c.857A>T	NP_001353183.1:p.Gln286Leu
NM_018289.4:c.1364A>T	NP_060759.2:p.Gln455Leu