Canonical Allele Identifier: CA624442872

Gene: VPS53

Linked Data

• dbSNP Id: rs1414826387
• gnomAD v2: 17-436009-T-C
• gnomAD v3: 17-532769-T-C
• gnomAD v4: 17-532769-T-C
• MyVariant Identifiers: chr17:g.436009T>C (hg19) ; chr17:g.532769T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.532769T>C , CM000679.2:g.532769T>C	GRCh38
NC_000017.10:g.436009T>C , CM000679.1:g.436009T>C	GRCh37
NC_000017.9:g.382759T>C	NCBI36
NG_034190.1:g.187088A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291074.10:c.*58A>G	ENSP00000291074.5:n.*58A>G
ENST00000437048.7:c.2085+73A>G MANE Select	ENSP00000401435.2:n.2085+73A>G
ENST00000571805.6:c.*58A>G	ENSP00000459312.1:n.*58A>G
ENST00000679817.1:c.*58A>G	ENSP00000505032.1:n.*58A>G
ENST00000680128.1:c.*58A>G	ENSP00000506159.1:n.*58A>G
ENST00000680465.1:c.2085+73A>G	ENSP00000505997.1:n.2085+73A>G
ENST00000680641.1:c.*3334+73A>G	ENSP00000505237.1:n.*3334+73A>G
ENST00000680872.1:c.*1211+73A>G	ENSP00000506605.1:n.*1211+73A>G
ENST00000681050.1:c.298+73A>G
ENST00000681096.1:c.*58A>G	ENSP00000506052.1:n.*58A>G
ENST00000681103.1:c.315+73A>G	ENSP00000505892.1:n.315+73A>G
ENST00000681160.1:c.1716+73A>G	ENSP00000504905.1:n.1716+73A>G
ENST00000681317.1:c.2015+4259A>G	ENSP00000505190.1:n.2015+4259A>G
ENST00000681478.1:c.*1978A>G	ENSP00000505041.1:n.*1978A>G
ENST00000681510.1:c.1935+73A>G	ENSP00000505594.1:n.1935+73A>G
ENST00000681600.1:n.1180+73A>G
ENST00000681661.1:c.*1066+73A>G	ENSP00000506596.1:n.*1066+73A>G
ENST00000681858.1:c.315+73A>G	ENSP00000505044.1:n.315+73A>G
ENST00000681917.1:c.1554+73A>G	ENSP00000505944.1:n.1554+73A>G
ENST00000681943.1:c.1803+73A>G	ENSP00000504889.1:n.1803+73A>G
ENST00000681946.1:c.*1066+73A>G	ENSP00000505563.1:n.*1066+73A>G
ENST00000291074.9:c.*58A>G	ENSP00000291074.5:n.*58A>G
ENST00000437048.6:c.2085+73A>G	ENSP00000401435.2:n.2085+73A>G
ENST00000570771.1:n.152+73A>G
ENST00000571805.5:c.*58A>G	ENSP00000459312.1:n.*58A>G
ENST00000573028.5:c.*1605A>G	ENSP00000458311.1:n.*1605A>G
ENST00000574029.5:c.207-15130A>G	ENSP00000459159.1:n.207-15130A>G
ENST00000576149.5:n.1855+73A>G
NM_001128159.2:c.2085+73A>G	NP_001121631.1:n.2085+73A>G
NM_018289.3:c.*58A>G	NP_060759.2:n.*58A>G
XM_011523953.1:c.*58A>G	XP_011522255.1:n.*58A>G
XR_934061.1:n.2382+73A>G
XR_934133.1:n.291-7620T>C
NM_001366253.1:c.*58A>G	NP_001353182.1:n.*58A>G
NM_001366254.1:c.*58A>G	NP_001353183.1:n.*58A>G
XM_017024817.2:c.1935+73A>G	XP_016880306.1:n.1935+73A>G
XM_017024818.1:c.1716+73A>G	XP_016880307.1:n.1716+73A>G
XR_001752553.2:n.2222+73A>G
XR_934061.3:n.2372+73A>G
NM_001128159.3:c.2085+73A>G MANE Select	NP_001121631.1:n.2085+73A>G
NM_001366253.2:c.*58A>G	NP_001353182.1:n.*58A>G
NM_001366254.2:c.*58A>G	NP_001353183.1:n.*58A>G
NM_018289.4:c.*58A>G	NP_060759.2:n.*58A>G