Canonical Allele Identifier: CA397710262

Gene: VPS53

Linked Data

• MyVariant Identifiers: chr17:g.436096C>T (hg19) ; chr17:g.532856C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.532856C>T , CM000679.2:g.532856C>T	GRCh38
NC_000017.10:g.436096C>T , CM000679.1:g.436096C>T	GRCh37
NC_000017.9:g.382846C>T	NCBI36
NG_034190.1:g.187001G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291074.10:c.1984G>A	ENSP00000291074.5:p.Val662Met
ENST00000437048.7:c.2071G>A MANE Select	ENSP00000401435.2:p.Val691Met
ENST00000571805.6:c.2071G>A	ENSP00000459312.1:p.Val691Met
ENST00000572334.7:c.1702G>A	ENSP00000506188.1:p.Val568Met
ENST00000679817.1:c.301G>A	ENSP00000505032.1:p.Val101Met
ENST00000680128.1:c.1867G>A	ENSP00000506159.1:p.Val623Met
ENST00000680465.1:c.2071G>A	ENSP00000505997.1:p.Val691Met
ENST00000680641.1:c.*3320G>A	ENSP00000505237.1:n.*3320G>A
ENST00000680704.1:c.1702G>A	ENSP00000506453.1:p.Val568Met
ENST00000680872.1:c.*1197G>A	ENSP00000506605.1:n.*1197G>A
ENST00000681050.1:c.284G>A
ENST00000681096.1:c.1612G>A	ENSP00000506052.1:p.Val538Met
ENST00000681103.1:c.301G>A	ENSP00000505892.1:p.Val101Met
ENST00000681160.1:c.1702G>A	ENSP00000504905.1:p.Val568Met
ENST00000681317.1:c.2015+4172G>A	ENSP00000505190.1:n.2015+4172G>A
ENST00000681478.1:c.*1891G>A	ENSP00000505041.1:n.*1891G>A
ENST00000681510.1:c.1921G>A	ENSP00000505594.1:p.Val641Met
ENST00000681600.1:n.1166G>A
ENST00000681661.1:c.*1052G>A	ENSP00000506596.1:n.*1052G>A
ENST00000681858.1:c.301G>A	ENSP00000505044.1:p.Val101Met
ENST00000681917.1:c.1540G>A	ENSP00000505944.1:p.Val514Met
ENST00000681943.1:c.1789G>A	ENSP00000504889.1:n.1789G>A
ENST00000681946.1:c.*1052G>A	ENSP00000505563.1:n.*1052G>A
ENST00000291074.9:c.1984G>A	ENSP00000291074.5:p.Val662Met
ENST00000389040.9:c.1874G>A	ENSP00000373692.5:n.1874G>A
ENST00000401468.7:c.1240G>A	ENSP00000384294.3:p.Val414Met
ENST00000437048.6:c.2071G>A	ENSP00000401435.2:p.Val691Met
ENST00000570771.1:n.138G>A
ENST00000571805.5:c.2071G>A	ENSP00000459312.1:p.Val691Met
ENST00000573028.5:c.*1518G>A	ENSP00000458311.1:n.*1518G>A
ENST00000574029.5:c.207-15217G>A	ENSP00000459159.1:n.207-15217G>A
ENST00000576149.5:n.1841G>A
NM_001128159.2:c.2071G>A	NP_001121631.1:p.Val691Met
NM_018289.3:c.1984G>A	NP_060759.2:p.Val662Met
XM_011523953.1:c.1477G>A	XP_011522255.1:p.Val493Met
XR_934061.1:n.2368G>A
XR_934133.1:n.291-7533C>T
NM_001366253.1:c.2071G>A	NP_001353182.1:p.Val691Met
NM_001366254.1:c.1477G>A	NP_001353183.1:p.Val493Met
XM_017024817.2:c.1921G>A	XP_016880306.1:p.Val641Met
XM_017024818.1:c.1702G>A	XP_016880307.1:p.Val568Met
XR_001752553.2:n.2208G>A
XR_934061.3:n.2358G>A
NM_001128159.3:c.2071G>A MANE Select	NP_001121631.1:p.Val691Met
NM_001366253.2:c.2071G>A	NP_001353182.1:p.Val691Met
NM_001366254.2:c.1477G>A	NP_001353183.1:p.Val493Met
NM_018289.4:c.1984G>A	NP_060759.2:p.Val662Met