Canonical Allele Identifier: CA397710385

Gene: VPS53

Linked Data

• dbSNP Id: rs1909709977
• gnomAD v3: 17-532888-G-T
• gnomAD v4: 17-532888-G-T
• MyVariant Identifiers: chr17:g.436128G>T (hg19) ; chr17:g.532888G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.532888G>T , CM000679.2:g.532888G>T	GRCh38
NC_000017.10:g.436128G>T , CM000679.1:g.436128G>T	GRCh37
NC_000017.9:g.382878G>T	NCBI36
NG_034190.1:g.186969C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291074.10:c.1952C>A	ENSP00000291074.5:p.Thr651Asn
ENST00000437048.7:c.2039C>A MANE Select	ENSP00000401435.2:p.Thr680Asn
ENST00000571805.6:c.2039C>A	ENSP00000459312.1:p.Thr680Asn
ENST00000572334.7:c.1670C>A	ENSP00000506188.1:p.Thr557Asn
ENST00000679817.1:c.269C>A	ENSP00000505032.1:p.Thr90Asn
ENST00000680128.1:c.1835C>A	ENSP00000506159.1:p.Thr612Asn
ENST00000680465.1:c.2039C>A	ENSP00000505997.1:p.Thr680Asn
ENST00000680641.1:c.*3288C>A	ENSP00000505237.1:n.*3288C>A
ENST00000680704.1:c.1670C>A	ENSP00000506453.1:p.Thr557Asn
ENST00000680872.1:c.*1165C>A	ENSP00000506605.1:n.*1165C>A
ENST00000681050.1:c.252C>A
ENST00000681096.1:c.1580C>A	ENSP00000506052.1:p.Thr527Asn
ENST00000681103.1:c.269C>A	ENSP00000505892.1:p.Thr90Asn
ENST00000681160.1:c.1670C>A	ENSP00000504905.1:p.Thr557Asn
ENST00000681317.1:c.2015+4140C>A	ENSP00000505190.1:n.2015+4140C>A
ENST00000681478.1:c.*1859C>A	ENSP00000505041.1:n.*1859C>A
ENST00000681510.1:c.1889C>A	ENSP00000505594.1:p.Thr630Asn
ENST00000681600.1:n.1134C>A
ENST00000681661.1:c.*1020C>A	ENSP00000506596.1:n.*1020C>A
ENST00000681858.1:c.269C>A	ENSP00000505044.1:p.Thr90Asn
ENST00000681917.1:c.1508C>A	ENSP00000505944.1:p.Thr503Asn
ENST00000681943.1:c.1757C>A	ENSP00000504889.1:n.1757C>A
ENST00000681946.1:c.*1020C>A	ENSP00000505563.1:n.*1020C>A
ENST00000291074.9:c.1952C>A	ENSP00000291074.5:p.Thr651Asn
ENST00000389040.9:c.1842C>A	ENSP00000373692.5:n.1842C>A
ENST00000401468.7:c.1208C>A	ENSP00000384294.3:p.Thr403Asn
ENST00000437048.6:c.2039C>A	ENSP00000401435.2:p.Thr680Asn
ENST00000570771.1:n.106C>A
ENST00000571805.5:c.2039C>A	ENSP00000459312.1:p.Thr680Asn
ENST00000573028.5:c.*1486C>A	ENSP00000458311.1:n.*1486C>A
ENST00000574029.5:c.207-15249C>A	ENSP00000459159.1:n.207-15249C>A
ENST00000576149.5:n.1809C>A
NM_001128159.2:c.2039C>A	NP_001121631.1:p.Thr680Asn
NM_018289.3:c.1952C>A	NP_060759.2:p.Thr651Asn
XM_011523953.1:c.1445C>A	XP_011522255.1:p.Thr482Asn
XR_934061.1:n.2336C>A
XR_934133.1:n.291-7501G>T
NM_001366253.1:c.2039C>A	NP_001353182.1:p.Thr680Asn
NM_001366254.1:c.1445C>A	NP_001353183.1:p.Thr482Asn
XM_017024817.2:c.1889C>A	XP_016880306.1:p.Thr630Asn
XM_017024818.1:c.1670C>A	XP_016880307.1:p.Thr557Asn
XR_001752553.2:n.2176C>A
XR_934061.3:n.2326C>A
NM_001128159.3:c.2039C>A MANE Select	NP_001121631.1:p.Thr680Asn
NM_001366253.2:c.2039C>A	NP_001353182.1:p.Thr680Asn
NM_001366254.2:c.1445C>A	NP_001353183.1:p.Thr482Asn
NM_018289.4:c.1952C>A	NP_060759.2:p.Thr651Asn