Canonical Allele Identifier: CA497382946

Gene: VPS53

Linked Data

• MyVariant Identifiers: chr17:g.465802G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.562562G>C , CM000679.2:g.562562G>C	GRCh38
NC_000017.10:g.465802G>C , CM000679.1:g.465802G>C	GRCh37
NC_000017.9:g.412552G>C	NCBI36
NG_034190.1:g.157295C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291074.10:c.1410C>G	ENSP00000291074.5:p.Thr470=
ENST00000437048.7:c.1497C>G MANE Select	ENSP00000401435.2:p.Thr499=
ENST00000571805.6:c.1497C>G	ENSP00000459312.1:p.Thr499=
ENST00000572334.7:c.1128C>G	ENSP00000506188.1:p.Thr376=
ENST00000572607.2:n.327C>G
ENST00000679361.1:c.1497C>G	ENSP00000504978.1:p.Thr499=
ENST00000679959.1:c.1030C>G	ENSP00000506180.1:n.1030C>G
ENST00000680069.1:c.1497C>G	ENSP00000505145.1:p.Thr499=
ENST00000680114.1:c.1023C>G	ENSP00000505327.1:p.Thr341=
ENST00000680128.1:c.1293C>G	ENSP00000506159.1:p.Thr431=
ENST00000680274.1:n.1059C>G
ENST00000680465.1:c.1497C>G	ENSP00000505997.1:p.Thr499=
ENST00000680641.1:c.*1317C>G	ENSP00000505237.1:n.*1317C>G
ENST00000680702.1:n.402C>G
ENST00000680704.1:c.1128C>G	ENSP00000506453.1:p.Thr376=
ENST00000680872.1:c.*623C>G	ENSP00000506605.1:n.*623C>G
ENST00000680944.1:n.892C>G
ENST00000680958.1:n.1404C>G
ENST00000681096.1:c.1038C>G	ENSP00000506052.1:p.Thr346=
ENST00000681154.1:c.1410C>G	ENSP00000505866.1:p.Thr470=
ENST00000681160.1:c.1128C>G	ENSP00000504905.1:p.Thr376=
ENST00000681317.1:c.1497C>G	ENSP00000505190.1:p.Thr499=
ENST00000681478.1:c.*1317C>G	ENSP00000505041.1:n.*1317C>G
ENST00000681510.1:c.1347C>G	ENSP00000505594.1:p.Thr449=
ENST00000681600.1:n.592C>G
ENST00000681661.1:c.*478C>G	ENSP00000506596.1:n.*478C>G
ENST00000681830.1:c.1046C>G	ENSP00000505322.1:n.1046C>G
ENST00000681897.1:n.749C>G
ENST00000681902.1:c.1497C>G	ENSP00000505328.1:p.Thr499=
ENST00000681917.1:c.966C>G	ENSP00000505944.1:p.Thr322=
ENST00000681943.1:c.1363C>G	ENSP00000504889.1:n.1363C>G
ENST00000681946.1:c.*478C>G	ENSP00000505563.1:n.*478C>G
ENST00000291074.9:c.1410C>G	ENSP00000291074.5:p.Thr470=
ENST00000389040.9:c.1353C>G	ENSP00000373692.5:p.Thr451=
ENST00000401468.7:c.666C>G	ENSP00000384294.3:p.Thr222=
ENST00000437048.6:c.1497C>G	ENSP00000401435.2:p.Thr499=
ENST00000571805.5:c.1497C>G	ENSP00000459312.1:p.Thr499=
ENST00000572607.1:n.125C>G
ENST00000573028.5:c.*944C>G	ENSP00000458311.1:n.*944C>G
ENST00000574029.5:c.207-44923C>G	ENSP00000459159.1:n.207-44923C>G
ENST00000576149.5:n.1267C>G
NM_001128159.2:c.1497C>G	NP_001121631.1:p.Thr499=
NM_018289.3:c.1410C>G	NP_060759.2:p.Thr470=
XM_011523953.1:c.903C>G	XP_011522255.1:p.Thr301=
XR_934061.1:n.1794C>G
XR_934062.1:n.1549C>G
NM_001366253.1:c.1497C>G	NP_001353182.1:p.Thr499=
NM_001366254.1:c.903C>G	NP_001353183.1:p.Thr301=
XM_017024817.2:c.1347C>G	XP_016880306.1:p.Thr449=
XM_017024818.1:c.1128C>G	XP_016880307.1:p.Thr376=
XR_001752553.2:n.1634C>G
XR_934061.3:n.1784C>G
XR_934062.2:n.1539C>G
NM_001128159.3:c.1497C>G MANE Select	NP_001121631.1:p.Thr499=
NM_001366253.2:c.1497C>G	NP_001353182.1:p.Thr499=
NM_001366254.2:c.903C>G	NP_001353183.1:p.Thr301=
NM_018289.4:c.1410C>G	NP_060759.2:p.Thr470=