Canonical Allele Identifier: CA397710240

Gene: VPS53

Linked Data

• MyVariant Identifiers: chr17:g.436090C>T (hg19) ; chr17:g.532850C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.532850C>T , CM000679.2:g.532850C>T	GRCh38
NC_000017.10:g.436090C>T , CM000679.1:g.436090C>T	GRCh37
NC_000017.9:g.382840C>T	NCBI36
NG_034190.1:g.187007G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291074.10:c.1990G>A	ENSP00000291074.5:p.Ala664Thr
ENST00000437048.7:c.2077G>A MANE Select	ENSP00000401435.2:p.Ala693Thr
ENST00000571805.6:c.2077G>A	ENSP00000459312.1:p.Ala693Thr
ENST00000572334.7:c.1708G>A	ENSP00000506188.1:p.Ala570Thr
ENST00000679817.1:c.307G>A	ENSP00000505032.1:p.Ala103Thr
ENST00000680128.1:c.1873G>A	ENSP00000506159.1:p.Ala625Thr
ENST00000680465.1:c.2077G>A	ENSP00000505997.1:p.Ala693Thr
ENST00000680641.1:c.*3326G>A	ENSP00000505237.1:n.*3326G>A
ENST00000680704.1:c.1708G>A	ENSP00000506453.1:p.Ala570Thr
ENST00000680872.1:c.*1203G>A	ENSP00000506605.1:n.*1203G>A
ENST00000681050.1:c.290G>A
ENST00000681096.1:c.1618G>A	ENSP00000506052.1:p.Ala540Thr
ENST00000681103.1:c.307G>A	ENSP00000505892.1:p.Ala103Thr
ENST00000681160.1:c.1708G>A	ENSP00000504905.1:p.Ala570Thr
ENST00000681317.1:c.2015+4178G>A	ENSP00000505190.1:n.2015+4178G>A
ENST00000681478.1:c.*1897G>A	ENSP00000505041.1:n.*1897G>A
ENST00000681510.1:c.1927G>A	ENSP00000505594.1:p.Ala643Thr
ENST00000681600.1:n.1172G>A
ENST00000681661.1:c.*1058G>A	ENSP00000506596.1:n.*1058G>A
ENST00000681858.1:c.307G>A	ENSP00000505044.1:p.Ala103Thr
ENST00000681917.1:c.1546G>A	ENSP00000505944.1:p.Ala516Thr
ENST00000681943.1:c.1795G>A	ENSP00000504889.1:n.1795G>A
ENST00000681946.1:c.*1058G>A	ENSP00000505563.1:n.*1058G>A
ENST00000291074.9:c.1990G>A	ENSP00000291074.5:p.Ala664Thr
ENST00000389040.9:c.1880G>A	ENSP00000373692.5:n.1880G>A
ENST00000401468.7:c.1246G>A	ENSP00000384294.3:p.Ala416Thr
ENST00000437048.6:c.2077G>A	ENSP00000401435.2:p.Ala693Thr
ENST00000570771.1:n.144G>A
ENST00000571805.5:c.2077G>A	ENSP00000459312.1:p.Ala693Thr
ENST00000573028.5:c.*1524G>A	ENSP00000458311.1:n.*1524G>A
ENST00000574029.5:c.207-15211G>A	ENSP00000459159.1:n.207-15211G>A
ENST00000576149.5:n.1847G>A
NM_001128159.2:c.2077G>A	NP_001121631.1:p.Ala693Thr
NM_018289.3:c.1990G>A	NP_060759.2:p.Ala664Thr
XM_011523953.1:c.1483G>A	XP_011522255.1:p.Ala495Thr
XR_934061.1:n.2374G>A
XR_934133.1:n.291-7539C>T
NM_001366253.1:c.2077G>A	NP_001353182.1:p.Ala693Thr
NM_001366254.1:c.1483G>A	NP_001353183.1:p.Ala495Thr
XM_017024817.2:c.1927G>A	XP_016880306.1:p.Ala643Thr
XM_017024818.1:c.1708G>A	XP_016880307.1:p.Ala570Thr
XR_001752553.2:n.2214G>A
XR_934061.3:n.2364G>A
NM_001128159.3:c.2077G>A MANE Select	NP_001121631.1:p.Ala693Thr
NM_001366253.2:c.2077G>A	NP_001353182.1:p.Ala693Thr
NM_001366254.2:c.1483G>A	NP_001353183.1:p.Ala495Thr
NM_018289.4:c.1990G>A	NP_060759.2:p.Ala664Thr