Canonical Allele Identifier: CA397710258

Gene: VPS53

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291074.10:c.1984G>T	ENSP00000291074.5:p.Val662Leu
ENST00000437048.7:c.2071G>T MANE Select	ENSP00000401435.2:p.Val691Leu
ENST00000571805.6:c.2071G>T	ENSP00000459312.1:p.Val691Leu
ENST00000572334.7:c.1702G>T	ENSP00000506188.1:p.Val568Leu
ENST00000679817.1:c.301G>T	ENSP00000505032.1:p.Val101Leu
ENST00000680128.1:c.1867G>T	ENSP00000506159.1:p.Val623Leu
ENST00000680465.1:c.2071G>T	ENSP00000505997.1:p.Val691Leu
ENST00000680641.1:c.*3320G>T	ENSP00000505237.1:n.*3320G>T
ENST00000680704.1:c.1702G>T	ENSP00000506453.1:p.Val568Leu
ENST00000680872.1:c.*1197G>T	ENSP00000506605.1:n.*1197G>T
ENST00000681050.1:c.284G>T
ENST00000681096.1:c.1612G>T	ENSP00000506052.1:p.Val538Leu
ENST00000681103.1:c.301G>T	ENSP00000505892.1:p.Val101Leu
ENST00000681160.1:c.1702G>T	ENSP00000504905.1:p.Val568Leu
ENST00000681317.1:c.2015+4172G>T	ENSP00000505190.1:n.2015+4172G>T
ENST00000681478.1:c.*1891G>T	ENSP00000505041.1:n.*1891G>T
ENST00000681510.1:c.1921G>T	ENSP00000505594.1:p.Val641Leu
ENST00000681600.1:n.1166G>T
ENST00000681661.1:c.*1052G>T	ENSP00000506596.1:n.*1052G>T
ENST00000681858.1:c.301G>T	ENSP00000505044.1:p.Val101Leu
ENST00000681917.1:c.1540G>T	ENSP00000505944.1:p.Val514Leu
ENST00000681943.1:c.1789G>T	ENSP00000504889.1:n.1789G>T
ENST00000681946.1:c.*1052G>T	ENSP00000505563.1:n.*1052G>T
ENST00000291074.9:c.1984G>T	ENSP00000291074.5:p.Val662Leu
ENST00000389040.9:c.1874G>T	ENSP00000373692.5:n.1874G>T
ENST00000401468.7:c.1240G>T	ENSP00000384294.3:p.Val414Leu
ENST00000437048.6:c.2071G>T	ENSP00000401435.2:p.Val691Leu
ENST00000570771.1:n.138G>T
ENST00000571805.5:c.2071G>T	ENSP00000459312.1:p.Val691Leu
ENST00000573028.5:c.*1518G>T	ENSP00000458311.1:n.*1518G>T
ENST00000574029.5:c.207-15217G>T	ENSP00000459159.1:n.207-15217G>T
ENST00000576149.5:n.1841G>T
NM_001128159.2:c.2071G>T	NP_001121631.1:p.Val691Leu
NM_018289.3:c.1984G>T	NP_060759.2:p.Val662Leu
XM_011523953.1:c.1477G>T	XP_011522255.1:p.Val493Leu
XR_934061.1:n.2368G>T
XR_934133.1:n.291-7533C>A
NM_001366253.1:c.2071G>T	NP_001353182.1:p.Val691Leu
NM_001366254.1:c.1477G>T	NP_001353183.1:p.Val493Leu
XM_017024817.2:c.1921G>T	XP_016880306.1:p.Val641Leu
XM_017024818.1:c.1702G>T	XP_016880307.1:p.Val568Leu
XR_001752553.2:n.2208G>T
XR_934061.3:n.2358G>T
NM_001128159.3:c.2071G>T MANE Select	NP_001121631.1:p.Val691Leu
NM_001366253.2:c.2071G>T	NP_001353182.1:p.Val691Leu
NM_001366254.2:c.1477G>T	NP_001353183.1:p.Val493Leu
NM_018289.4:c.1984G>T	NP_060759.2:p.Val662Leu