Canonical Allele Identifier: CA397710199

Gene: VPS53

Linked Data

• MyVariant Identifiers: chr17:g.436081C>A (hg19) ; chr17:g.532841C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.532841C>A , CM000679.2:g.532841C>A	GRCh38
NC_000017.10:g.436081C>A , CM000679.1:g.436081C>A	GRCh37
NC_000017.9:g.382831C>A	NCBI36
NG_034190.1:g.187016G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291074.10:c.1999G>T	ENSP00000291074.5:p.Val667Leu
ENST00000437048.7:c.2085+1G>T MANE Select	ENSP00000401435.2:n.2085+1G>T
ENST00000571805.6:c.2086G>T	ENSP00000459312.1:p.Val696Leu
ENST00000679817.1:c.316G>T	ENSP00000505032.1:p.Val106Leu
ENST00000680128.1:c.1882G>T	ENSP00000506159.1:p.Val628Leu
ENST00000680465.1:c.2085+1G>T	ENSP00000505997.1:n.2085+1G>T
ENST00000680641.1:c.*3334+1G>T	ENSP00000505237.1:n.*3334+1G>T
ENST00000680872.1:c.*1211+1G>T	ENSP00000506605.1:n.*1211+1G>T
ENST00000681050.1:c.298+1G>T
ENST00000681096.1:c.1627G>T	ENSP00000506052.1:p.Val543Leu
ENST00000681103.1:c.315+1G>T	ENSP00000505892.1:n.315+1G>T
ENST00000681160.1:c.1716+1G>T	ENSP00000504905.1:n.1716+1G>T
ENST00000681317.1:c.2015+4187G>T	ENSP00000505190.1:n.2015+4187G>T
ENST00000681478.1:c.*1906G>T	ENSP00000505041.1:n.*1906G>T
ENST00000681510.1:c.1935+1G>T	ENSP00000505594.1:n.1935+1G>T
ENST00000681600.1:n.1180+1G>T
ENST00000681661.1:c.*1066+1G>T	ENSP00000506596.1:n.*1066+1G>T
ENST00000681858.1:c.315+1G>T	ENSP00000505044.1:n.315+1G>T
ENST00000681917.1:c.1554+1G>T	ENSP00000505944.1:n.1554+1G>T
ENST00000681943.1:c.1803+1G>T	ENSP00000504889.1:n.1803+1G>T
ENST00000681946.1:c.*1066+1G>T	ENSP00000505563.1:n.*1066+1G>T
ENST00000291074.9:c.1999G>T	ENSP00000291074.5:p.Val667Leu
ENST00000389040.9:c.1889G>T	ENSP00000373692.5:n.1889G>T
ENST00000401468.7:c.1255G>T	ENSP00000384294.3:p.Val419Leu
ENST00000437048.6:c.2085+1G>T	ENSP00000401435.2:n.2085+1G>T
ENST00000570771.1:n.152+1G>T
ENST00000571805.5:c.2086G>T	ENSP00000459312.1:p.Val696Leu
ENST00000573028.5:c.*1533G>T	ENSP00000458311.1:n.*1533G>T
ENST00000574029.5:c.207-15202G>T	ENSP00000459159.1:n.207-15202G>T
ENST00000576149.5:n.1855+1G>T
NM_001128159.2:c.2085+1G>T	NP_001121631.1:n.2085+1G>T
NM_018289.3:c.1999G>T	NP_060759.2:p.Val667Leu
XM_011523953.1:c.1492G>T	XP_011522255.1:p.Val498Leu
XR_934061.1:n.2382+1G>T
XR_934133.1:n.291-7548C>A
NM_001366253.1:c.2086G>T	NP_001353182.1:p.Val696Leu
NM_001366254.1:c.1492G>T	NP_001353183.1:p.Val498Leu
XM_017024817.2:c.1935+1G>T	XP_016880306.1:n.1935+1G>T
XM_017024818.1:c.1716+1G>T	XP_016880307.1:n.1716+1G>T
XR_001752553.2:n.2222+1G>T
XR_934061.3:n.2372+1G>T
NM_001128159.3:c.2085+1G>T MANE Select	NP_001121631.1:n.2085+1G>T
NM_001366253.2:c.2086G>T	NP_001353182.1:p.Val696Leu
NM_001366254.2:c.1492G>T	NP_001353183.1:p.Val498Leu
NM_018289.4:c.1999G>T	NP_060759.2:p.Val667Leu