Canonical Allele Identifier: CA397710281

Gene: VPS53

Linked Data

• MyVariant Identifiers: chr17:g.436100G>T (hg19) ; chr17:g.532860G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.532860G>T , CM000679.2:g.532860G>T	GRCh38
NC_000017.10:g.436100G>T , CM000679.1:g.436100G>T	GRCh37
NC_000017.9:g.382850G>T	NCBI36
NG_034190.1:g.186997C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291074.10:c.1980C>A	ENSP00000291074.5:p.Ser660Arg
ENST00000437048.7:c.2067C>A MANE Select	ENSP00000401435.2:p.Ser689Arg
ENST00000571805.6:c.2067C>A	ENSP00000459312.1:p.Ser689Arg
ENST00000572334.7:c.1698C>A	ENSP00000506188.1:p.Ser566Arg
ENST00000679817.1:c.297C>A	ENSP00000505032.1:p.Ser99Arg
ENST00000680128.1:c.1863C>A	ENSP00000506159.1:p.Ser621Arg
ENST00000680465.1:c.2067C>A	ENSP00000505997.1:p.Ser689Arg
ENST00000680641.1:c.*3316C>A	ENSP00000505237.1:n.*3316C>A
ENST00000680704.1:c.1698C>A	ENSP00000506453.1:p.Ser566Arg
ENST00000680872.1:c.*1193C>A	ENSP00000506605.1:n.*1193C>A
ENST00000681050.1:c.280C>A
ENST00000681096.1:c.1608C>A	ENSP00000506052.1:p.Ser536Arg
ENST00000681103.1:c.297C>A	ENSP00000505892.1:p.Ser99Arg
ENST00000681160.1:c.1698C>A	ENSP00000504905.1:p.Ser566Arg
ENST00000681317.1:c.2015+4168C>A	ENSP00000505190.1:n.2015+4168C>A
ENST00000681478.1:c.*1887C>A	ENSP00000505041.1:n.*1887C>A
ENST00000681510.1:c.1917C>A	ENSP00000505594.1:p.Ser639Arg
ENST00000681600.1:n.1162C>A
ENST00000681661.1:c.*1048C>A	ENSP00000506596.1:n.*1048C>A
ENST00000681858.1:c.297C>A	ENSP00000505044.1:p.Ser99Arg
ENST00000681917.1:c.1536C>A	ENSP00000505944.1:p.Ser512Arg
ENST00000681943.1:c.1785C>A	ENSP00000504889.1:n.1785C>A
ENST00000681946.1:c.*1048C>A	ENSP00000505563.1:n.*1048C>A
ENST00000291074.9:c.1980C>A	ENSP00000291074.5:p.Ser660Arg
ENST00000389040.9:c.1870C>A	ENSP00000373692.5:n.1870C>A
ENST00000401468.7:c.1236C>A	ENSP00000384294.3:p.Ser412Arg
ENST00000437048.6:c.2067C>A	ENSP00000401435.2:p.Ser689Arg
ENST00000570771.1:n.134C>A
ENST00000571805.5:c.2067C>A	ENSP00000459312.1:p.Ser689Arg
ENST00000573028.5:c.*1514C>A	ENSP00000458311.1:n.*1514C>A
ENST00000574029.5:c.207-15221C>A	ENSP00000459159.1:n.207-15221C>A
ENST00000576149.5:n.1837C>A
NM_001128159.2:c.2067C>A	NP_001121631.1:p.Ser689Arg
NM_018289.3:c.1980C>A	NP_060759.2:p.Ser660Arg
XM_011523953.1:c.1473C>A	XP_011522255.1:p.Ser491Arg
XR_934061.1:n.2364C>A
XR_934133.1:n.291-7529G>T
NM_001366253.1:c.2067C>A	NP_001353182.1:p.Ser689Arg
NM_001366254.1:c.1473C>A	NP_001353183.1:p.Ser491Arg
XM_017024817.2:c.1917C>A	XP_016880306.1:p.Ser639Arg
XM_017024818.1:c.1698C>A	XP_016880307.1:p.Ser566Arg
XR_001752553.2:n.2204C>A
XR_934061.3:n.2354C>A
NM_001128159.3:c.2067C>A MANE Select	NP_001121631.1:p.Ser689Arg
NM_001366253.2:c.2067C>A	NP_001353182.1:p.Ser689Arg
NM_001366254.2:c.1473C>A	NP_001353183.1:p.Ser491Arg
NM_018289.4:c.1980C>A	NP_060759.2:p.Ser660Arg