Canonical Allele Identifier: CA397488589

Gene: VPS53

Linked Data

• gnomAD v4: 17-562512-T-G
• MyVariant Identifiers: chr17:g.465752T>G (hg19) ; chr17:g.562512T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000291074.10:c.1460A>C	ENSP00000291074.5:p.Asn487Thr
ENST00000437048.7:c.1547A>C MANE Select	ENSP00000401435.2:p.Asn516Thr
ENST00000571805.6:c.1547A>C	ENSP00000459312.1:p.Asn516Thr
ENST00000572334.7:c.1178A>C	ENSP00000506188.1:p.Asn393Thr
ENST00000572607.2:n.377A>C
ENST00000679361.1:c.1547A>C	ENSP00000504978.1:p.Asn516Thr
ENST00000679959.1:c.1080A>C	ENSP00000506180.1:n.1080A>C
ENST00000680069.1:c.1547A>C	ENSP00000505145.1:p.Asn516Thr
ENST00000680114.1:c.1073A>C	ENSP00000505327.1:p.Asn358Thr
ENST00000680128.1:c.1343A>C	ENSP00000506159.1:p.Asn448Thr
ENST00000680274.1:n.1109A>C
ENST00000680465.1:c.1547A>C	ENSP00000505997.1:p.Asn516Thr
ENST00000680641.1:c.*1367A>C	ENSP00000505237.1:n.*1367A>C
ENST00000680702.1:n.452A>C
ENST00000680704.1:c.1178A>C	ENSP00000506453.1:p.Asn393Thr
ENST00000680872.1:c.*673A>C	ENSP00000506605.1:n.*673A>C
ENST00000680944.1:n.942A>C
ENST00000680958.1:n.1454A>C
ENST00000681096.1:c.1088A>C	ENSP00000506052.1:p.Asn363Thr
ENST00000681154.1:c.1460A>C	ENSP00000505866.1:p.Asn487Thr
ENST00000681160.1:c.1178A>C	ENSP00000504905.1:p.Asn393Thr
ENST00000681317.1:c.1547A>C	ENSP00000505190.1:p.Asn516Thr
ENST00000681478.1:c.*1367A>C	ENSP00000505041.1:n.*1367A>C
ENST00000681510.1:c.1397A>C	ENSP00000505594.1:p.Asn466Thr
ENST00000681600.1:n.642A>C
ENST00000681661.1:c.*528A>C	ENSP00000506596.1:n.*528A>C
ENST00000681830.1:c.1096A>C	ENSP00000505322.1:n.1096A>C
ENST00000681897.1:n.799A>C
ENST00000681902.1:c.1547A>C	ENSP00000505328.1:p.Asn516Thr
ENST00000681917.1:c.1016A>C	ENSP00000505944.1:p.Asn339Thr
ENST00000681943.1:c.1413A>C	ENSP00000504889.1:n.1413A>C
ENST00000681946.1:c.*528A>C	ENSP00000505563.1:n.*528A>C
ENST00000291074.9:c.1460A>C	ENSP00000291074.5:p.Asn487Thr
ENST00000389040.9:c.1403A>C	ENSP00000373692.5:p.Asn468Thr
ENST00000401468.7:c.716A>C	ENSP00000384294.3:p.Asn239Thr
ENST00000437048.6:c.1547A>C	ENSP00000401435.2:p.Asn516Thr
ENST00000571805.5:c.1547A>C	ENSP00000459312.1:p.Asn516Thr
ENST00000572607.1:n.175A>C
ENST00000573028.5:c.*994A>C	ENSP00000458311.1:n.*994A>C
ENST00000574029.5:c.207-44873A>C	ENSP00000459159.1:n.207-44873A>C
ENST00000576149.5:n.1317A>C
NM_001128159.2:c.1547A>C	NP_001121631.1:p.Asn516Thr
NM_018289.3:c.1460A>C	NP_060759.2:p.Asn487Thr
XM_011523953.1:c.953A>C	XP_011522255.1:p.Asn318Thr
XR_934061.1:n.1844A>C
XR_934062.1:n.1599A>C
NM_001366253.1:c.1547A>C	NP_001353182.1:p.Asn516Thr
NM_001366254.1:c.953A>C	NP_001353183.1:p.Asn318Thr
XM_017024817.2:c.1397A>C	XP_016880306.1:p.Asn466Thr
XM_017024818.1:c.1178A>C	XP_016880307.1:p.Asn393Thr
XR_001752553.2:n.1684A>C
XR_934061.3:n.1834A>C
XR_934062.2:n.1589A>C
NM_001128159.3:c.1547A>C MANE Select	NP_001121631.1:p.Asn516Thr
NM_001366253.2:c.1547A>C	NP_001353182.1:p.Asn516Thr
NM_001366254.2:c.953A>C	NP_001353183.1:p.Asn318Thr
NM_018289.4:c.1460A>C	NP_060759.2:p.Asn487Thr