Canonical Allele Identifier: CA397488590

Gene: VPS53

Linked Data

• dbSNP Id: rs1438406724
• gnomAD v2: 17-465752-T-C
• gnomAD v3: 17-562512-T-C
• gnomAD v4: 17-562512-T-C
• MyVariant Identifiers: chr17:g.465752T>C (hg19) ; chr17:g.562512T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.562512T>C , CM000679.2:g.562512T>C	GRCh38
NC_000017.10:g.465752T>C , CM000679.1:g.465752T>C	GRCh37
NC_000017.9:g.412502T>C	NCBI36
NG_034190.1:g.157345A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000291074.10:c.1460A>G	ENSP00000291074.5:p.Asn487Ser
ENST00000437048.7:c.1547A>G MANE Select	ENSP00000401435.2:p.Asn516Ser
ENST00000571805.6:c.1547A>G	ENSP00000459312.1:p.Asn516Ser
ENST00000572334.7:c.1178A>G	ENSP00000506188.1:p.Asn393Ser
ENST00000572607.2:n.377A>G
ENST00000679361.1:c.1547A>G	ENSP00000504978.1:p.Asn516Ser
ENST00000679959.1:c.1080A>G	ENSP00000506180.1:n.1080A>G
ENST00000680069.1:c.1547A>G	ENSP00000505145.1:p.Asn516Ser
ENST00000680114.1:c.1073A>G	ENSP00000505327.1:p.Asn358Ser
ENST00000680128.1:c.1343A>G	ENSP00000506159.1:p.Asn448Ser
ENST00000680274.1:n.1109A>G
ENST00000680465.1:c.1547A>G	ENSP00000505997.1:p.Asn516Ser
ENST00000680641.1:c.*1367A>G	ENSP00000505237.1:n.*1367A>G
ENST00000680702.1:n.452A>G
ENST00000680704.1:c.1178A>G	ENSP00000506453.1:p.Asn393Ser
ENST00000680872.1:c.*673A>G	ENSP00000506605.1:n.*673A>G
ENST00000680944.1:n.942A>G
ENST00000680958.1:n.1454A>G
ENST00000681096.1:c.1088A>G	ENSP00000506052.1:p.Asn363Ser
ENST00000681154.1:c.1460A>G	ENSP00000505866.1:p.Asn487Ser
ENST00000681160.1:c.1178A>G	ENSP00000504905.1:p.Asn393Ser
ENST00000681317.1:c.1547A>G	ENSP00000505190.1:p.Asn516Ser
ENST00000681478.1:c.*1367A>G	ENSP00000505041.1:n.*1367A>G
ENST00000681510.1:c.1397A>G	ENSP00000505594.1:p.Asn466Ser
ENST00000681600.1:n.642A>G
ENST00000681661.1:c.*528A>G	ENSP00000506596.1:n.*528A>G
ENST00000681830.1:c.1096A>G	ENSP00000505322.1:n.1096A>G
ENST00000681897.1:n.799A>G
ENST00000681902.1:c.1547A>G	ENSP00000505328.1:p.Asn516Ser
ENST00000681917.1:c.1016A>G	ENSP00000505944.1:p.Asn339Ser
ENST00000681943.1:c.1413A>G	ENSP00000504889.1:n.1413A>G
ENST00000681946.1:c.*528A>G	ENSP00000505563.1:n.*528A>G
ENST00000291074.9:c.1460A>G	ENSP00000291074.5:p.Asn487Ser
ENST00000389040.9:c.1403A>G	ENSP00000373692.5:p.Asn468Ser
ENST00000401468.7:c.716A>G	ENSP00000384294.3:p.Asn239Ser
ENST00000437048.6:c.1547A>G	ENSP00000401435.2:p.Asn516Ser
ENST00000571805.5:c.1547A>G	ENSP00000459312.1:p.Asn516Ser
ENST00000572607.1:n.175A>G
ENST00000573028.5:c.*994A>G	ENSP00000458311.1:n.*994A>G
ENST00000574029.5:c.207-44873A>G	ENSP00000459159.1:n.207-44873A>G
ENST00000576149.5:n.1317A>G
NM_001128159.2:c.1547A>G	NP_001121631.1:p.Asn516Ser
NM_018289.3:c.1460A>G	NP_060759.2:p.Asn487Ser
XM_011523953.1:c.953A>G	XP_011522255.1:p.Asn318Ser
XR_934061.1:n.1844A>G
XR_934062.1:n.1599A>G
NM_001366253.1:c.1547A>G	NP_001353182.1:p.Asn516Ser
NM_001366254.1:c.953A>G	NP_001353183.1:p.Asn318Ser
XM_017024817.2:c.1397A>G	XP_016880306.1:p.Asn466Ser
XM_017024818.1:c.1178A>G	XP_016880307.1:p.Asn393Ser
XR_001752553.2:n.1684A>G
XR_934061.3:n.1834A>G
XR_934062.2:n.1589A>G
NM_001128159.3:c.1547A>G MANE Select	NP_001121631.1:p.Asn516Ser
NM_001366253.2:c.1547A>G	NP_001353182.1:p.Asn516Ser
NM_001366254.2:c.953A>G	NP_001353183.1:p.Asn318Ser
NM_018289.4:c.1460A>G	NP_060759.2:p.Asn487Ser