Canonical Allele Identifier: CA397710411

Gene: VPS53

Linked Data

• gnomAD v4: 17-532892-T-C
• MyVariant Identifiers: chr17:g.436132T>C (hg19) ; chr17:g.532892T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.532892T>C , CM000679.2:g.532892T>C	GRCh38
NC_000017.10:g.436132T>C , CM000679.1:g.436132T>C	GRCh37
NC_000017.9:g.382882T>C	NCBI36
NG_034190.1:g.186965A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291074.10:c.1948A>G	ENSP00000291074.5:p.Ile650Val
ENST00000437048.7:c.2035A>G MANE Select	ENSP00000401435.2:p.Ile679Val
ENST00000571805.6:c.2035A>G	ENSP00000459312.1:p.Ile679Val
ENST00000572334.7:c.1666A>G	ENSP00000506188.1:p.Ile556Val
ENST00000679817.1:c.265A>G	ENSP00000505032.1:p.Ile89Val
ENST00000680128.1:c.1831A>G	ENSP00000506159.1:p.Ile611Val
ENST00000680465.1:c.2035A>G	ENSP00000505997.1:p.Ile679Val
ENST00000680641.1:c.*3284A>G	ENSP00000505237.1:n.*3284A>G
ENST00000680704.1:c.1666A>G	ENSP00000506453.1:p.Ile556Val
ENST00000680872.1:c.*1161A>G	ENSP00000506605.1:n.*1161A>G
ENST00000681050.1:c.248A>G
ENST00000681096.1:c.1576A>G	ENSP00000506052.1:p.Ile526Val
ENST00000681103.1:c.265A>G	ENSP00000505892.1:p.Ile89Val
ENST00000681160.1:c.1666A>G	ENSP00000504905.1:p.Ile556Val
ENST00000681317.1:c.2015+4136A>G	ENSP00000505190.1:n.2015+4136A>G
ENST00000681478.1:c.*1855A>G	ENSP00000505041.1:n.*1855A>G
ENST00000681510.1:c.1885A>G	ENSP00000505594.1:p.Ile629Val
ENST00000681600.1:n.1130A>G
ENST00000681661.1:c.*1016A>G	ENSP00000506596.1:n.*1016A>G
ENST00000681858.1:c.265A>G	ENSP00000505044.1:p.Ile89Val
ENST00000681917.1:c.1504A>G	ENSP00000505944.1:p.Ile502Val
ENST00000681943.1:c.1753A>G	ENSP00000504889.1:n.1753A>G
ENST00000681946.1:c.*1016A>G	ENSP00000505563.1:n.*1016A>G
ENST00000291074.9:c.1948A>G	ENSP00000291074.5:p.Ile650Val
ENST00000389040.9:c.1838A>G	ENSP00000373692.5:n.1838A>G
ENST00000401468.7:c.1204A>G	ENSP00000384294.3:p.Ile402Val
ENST00000437048.6:c.2035A>G	ENSP00000401435.2:p.Ile679Val
ENST00000570771.1:n.102A>G
ENST00000571805.5:c.2035A>G	ENSP00000459312.1:p.Ile679Val
ENST00000573028.5:c.*1482A>G	ENSP00000458311.1:n.*1482A>G
ENST00000574029.5:c.207-15253A>G	ENSP00000459159.1:n.207-15253A>G
ENST00000576149.5:n.1805A>G
NM_001128159.2:c.2035A>G	NP_001121631.1:p.Ile679Val
NM_018289.3:c.1948A>G	NP_060759.2:p.Ile650Val
XM_011523953.1:c.1441A>G	XP_011522255.1:p.Ile481Val
XR_934061.1:n.2332A>G
XR_934133.1:n.291-7497T>C
NM_001366253.1:c.2035A>G	NP_001353182.1:p.Ile679Val
NM_001366254.1:c.1441A>G	NP_001353183.1:p.Ile481Val
XM_017024817.2:c.1885A>G	XP_016880306.1:p.Ile629Val
XM_017024818.1:c.1666A>G	XP_016880307.1:p.Ile556Val
XR_001752553.2:n.2172A>G
XR_934061.3:n.2322A>G
NM_001128159.3:c.2035A>G MANE Select	NP_001121631.1:p.Ile679Val
NM_001366253.2:c.2035A>G	NP_001353182.1:p.Ile679Val
NM_001366254.2:c.1441A>G	NP_001353183.1:p.Ile481Val
NM_018289.4:c.1948A>G	NP_060759.2:p.Ile650Val