Canonical Allele Identifier: CA497239542

Gene: VPS53

Linked Data

• MyVariant Identifiers: chr17:g.465754G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.562514G>A , CM000679.2:g.562514G>A	GRCh38
NC_000017.10:g.465754G>A , CM000679.1:g.465754G>A	GRCh37
NC_000017.9:g.412504G>A	NCBI36
NG_034190.1:g.157343C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000291074.10:c.1458C>T	ENSP00000291074.5:p.Gly486=
ENST00000437048.7:c.1545C>T MANE Select	ENSP00000401435.2:p.Gly515=
ENST00000571805.6:c.1545C>T	ENSP00000459312.1:p.Gly515=
ENST00000572334.7:c.1176C>T	ENSP00000506188.1:p.Gly392=
ENST00000572607.2:n.375C>T
ENST00000679361.1:c.1545C>T	ENSP00000504978.1:p.Gly515=
ENST00000679959.1:c.1078C>T	ENSP00000506180.1:n.1078C>T
ENST00000680069.1:c.1545C>T	ENSP00000505145.1:p.Gly515=
ENST00000680114.1:c.1071C>T	ENSP00000505327.1:p.Gly357=
ENST00000680128.1:c.1341C>T	ENSP00000506159.1:p.Gly447=
ENST00000680274.1:n.1107C>T
ENST00000680465.1:c.1545C>T	ENSP00000505997.1:p.Gly515=
ENST00000680641.1:c.*1365C>T	ENSP00000505237.1:n.*1365C>T
ENST00000680702.1:n.450C>T
ENST00000680704.1:c.1176C>T	ENSP00000506453.1:p.Gly392=
ENST00000680872.1:c.*671C>T	ENSP00000506605.1:n.*671C>T
ENST00000680944.1:n.940C>T
ENST00000680958.1:n.1452C>T
ENST00000681096.1:c.1086C>T	ENSP00000506052.1:p.Gly362=
ENST00000681154.1:c.1458C>T	ENSP00000505866.1:p.Gly486=
ENST00000681160.1:c.1176C>T	ENSP00000504905.1:p.Gly392=
ENST00000681317.1:c.1545C>T	ENSP00000505190.1:p.Gly515=
ENST00000681478.1:c.*1365C>T	ENSP00000505041.1:n.*1365C>T
ENST00000681510.1:c.1395C>T	ENSP00000505594.1:p.Gly465=
ENST00000681600.1:n.640C>T
ENST00000681661.1:c.*526C>T	ENSP00000506596.1:n.*526C>T
ENST00000681830.1:c.1094C>T	ENSP00000505322.1:n.1094C>T
ENST00000681897.1:n.797C>T
ENST00000681902.1:c.1545C>T	ENSP00000505328.1:p.Gly515=
ENST00000681917.1:c.1014C>T	ENSP00000505944.1:p.Gly338=
ENST00000681943.1:c.1411C>T	ENSP00000504889.1:n.1411C>T
ENST00000681946.1:c.*526C>T	ENSP00000505563.1:n.*526C>T
ENST00000291074.9:c.1458C>T	ENSP00000291074.5:p.Gly486=
ENST00000389040.9:c.1401C>T	ENSP00000373692.5:p.Gly467=
ENST00000401468.7:c.714C>T	ENSP00000384294.3:p.Gly238=
ENST00000437048.6:c.1545C>T	ENSP00000401435.2:p.Gly515=
ENST00000571805.5:c.1545C>T	ENSP00000459312.1:p.Gly515=
ENST00000572607.1:n.173C>T
ENST00000573028.5:c.*992C>T	ENSP00000458311.1:n.*992C>T
ENST00000574029.5:c.207-44875C>T	ENSP00000459159.1:n.207-44875C>T
ENST00000576149.5:n.1315C>T
NM_001128159.2:c.1545C>T	NP_001121631.1:p.Gly515=
NM_018289.3:c.1458C>T	NP_060759.2:p.Gly486=
XM_011523953.1:c.951C>T	XP_011522255.1:p.Gly317=
XR_934061.1:n.1842C>T
XR_934062.1:n.1597C>T
NM_001366253.1:c.1545C>T	NP_001353182.1:p.Gly515=
NM_001366254.1:c.951C>T	NP_001353183.1:p.Gly317=
XM_017024817.2:c.1395C>T	XP_016880306.1:p.Gly465=
XM_017024818.1:c.1176C>T	XP_016880307.1:p.Gly392=
XR_001752553.2:n.1682C>T
XR_934061.3:n.1832C>T
XR_934062.2:n.1587C>T
NM_001128159.3:c.1545C>T MANE Select	NP_001121631.1:p.Gly515=
NM_001366253.2:c.1545C>T	NP_001353182.1:p.Gly515=
NM_001366254.2:c.951C>T	NP_001353183.1:p.Gly317=
NM_018289.4:c.1458C>T	NP_060759.2:p.Gly486=