Canonical Allele Identifier: CA397488575

Gene: VPS53

Linked Data

• gnomAD v4: 17-562509-A-C
• MyVariant Identifiers: chr17:g.465749A>C (hg19) ; chr17:g.562509A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.562509A>C , CM000679.2:g.562509A>C	GRCh38
NC_000017.10:g.465749A>C , CM000679.1:g.465749A>C	GRCh37
NC_000017.9:g.412499A>C	NCBI36
NG_034190.1:g.157348T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000291074.10:c.1463T>G	ENSP00000291074.5:p.Leu488Arg
ENST00000437048.7:c.1550T>G MANE Select	ENSP00000401435.2:p.Leu517Arg
ENST00000571805.6:c.1550T>G	ENSP00000459312.1:p.Leu517Arg
ENST00000572334.7:c.1181T>G	ENSP00000506188.1:p.Leu394Arg
ENST00000572607.2:n.380T>G
ENST00000679361.1:c.1550T>G	ENSP00000504978.1:p.Leu517Arg
ENST00000679959.1:c.1083T>G	ENSP00000506180.1:n.1083T>G
ENST00000680069.1:c.1550T>G	ENSP00000505145.1:p.Leu517Arg
ENST00000680114.1:c.1076T>G	ENSP00000505327.1:p.Leu359Arg
ENST00000680128.1:c.1346T>G	ENSP00000506159.1:p.Leu449Arg
ENST00000680274.1:n.1112T>G
ENST00000680465.1:c.1550T>G	ENSP00000505997.1:p.Leu517Arg
ENST00000680641.1:c.*1370T>G	ENSP00000505237.1:n.*1370T>G
ENST00000680702.1:n.455T>G
ENST00000680704.1:c.1181T>G	ENSP00000506453.1:p.Leu394Arg
ENST00000680872.1:c.*676T>G	ENSP00000506605.1:n.*676T>G
ENST00000680944.1:n.945T>G
ENST00000680958.1:n.1457T>G
ENST00000681096.1:c.1091T>G	ENSP00000506052.1:p.Leu364Arg
ENST00000681154.1:c.1463T>G	ENSP00000505866.1:p.Leu488Arg
ENST00000681160.1:c.1181T>G	ENSP00000504905.1:p.Leu394Arg
ENST00000681317.1:c.1550T>G	ENSP00000505190.1:p.Leu517Arg
ENST00000681478.1:c.*1370T>G	ENSP00000505041.1:n.*1370T>G
ENST00000681510.1:c.1400T>G	ENSP00000505594.1:p.Leu467Arg
ENST00000681600.1:n.645T>G
ENST00000681661.1:c.*531T>G	ENSP00000506596.1:n.*531T>G
ENST00000681830.1:c.1099T>G	ENSP00000505322.1:n.1099T>G
ENST00000681897.1:n.802T>G
ENST00000681902.1:c.1550T>G	ENSP00000505328.1:p.Leu517Arg
ENST00000681917.1:c.1019T>G	ENSP00000505944.1:p.Leu340Arg
ENST00000681943.1:c.1416T>G	ENSP00000504889.1:n.1416T>G
ENST00000681946.1:c.*531T>G	ENSP00000505563.1:n.*531T>G
ENST00000291074.9:c.1463T>G	ENSP00000291074.5:p.Leu488Arg
ENST00000389040.9:c.1406T>G	ENSP00000373692.5:p.Leu469Arg
ENST00000401468.7:c.719T>G	ENSP00000384294.3:p.Leu240Arg
ENST00000437048.6:c.1550T>G	ENSP00000401435.2:p.Leu517Arg
ENST00000571805.5:c.1550T>G	ENSP00000459312.1:p.Leu517Arg
ENST00000572607.1:n.178T>G
ENST00000573028.5:c.*997T>G	ENSP00000458311.1:n.*997T>G
ENST00000574029.5:c.207-44870T>G	ENSP00000459159.1:n.207-44870T>G
ENST00000576149.5:n.1320T>G
NM_001128159.2:c.1550T>G	NP_001121631.1:p.Leu517Arg
NM_018289.3:c.1463T>G	NP_060759.2:p.Leu488Arg
XM_011523953.1:c.956T>G	XP_011522255.1:p.Leu319Arg
XR_934061.1:n.1847T>G
XR_934062.1:n.1602T>G
NM_001366253.1:c.1550T>G	NP_001353182.1:p.Leu517Arg
NM_001366254.1:c.956T>G	NP_001353183.1:p.Leu319Arg
XM_017024817.2:c.1400T>G	XP_016880306.1:p.Leu467Arg
XM_017024818.1:c.1181T>G	XP_016880307.1:p.Leu394Arg
XR_001752553.2:n.1687T>G
XR_934061.3:n.1837T>G
XR_934062.2:n.1592T>G
NM_001128159.3:c.1550T>G MANE Select	NP_001121631.1:p.Leu517Arg
NM_001366253.2:c.1550T>G	NP_001353182.1:p.Leu517Arg
NM_001366254.2:c.956T>G	NP_001353183.1:p.Leu319Arg
NM_018289.4:c.1463T>G	NP_060759.2:p.Leu488Arg