Canonical Allele Identifier: CA497239539

Gene: VPS53

Linked Data

• MyVariant Identifiers: chr17:g.465751G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.562511G>A , CM000679.2:g.562511G>A	GRCh38
NC_000017.10:g.465751G>A , CM000679.1:g.465751G>A	GRCh37
NC_000017.9:g.412501G>A	NCBI36
NG_034190.1:g.157346C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000291074.10:c.1461C>T	ENSP00000291074.5:p.Asn487=
ENST00000437048.7:c.1548C>T MANE Select	ENSP00000401435.2:p.Asn516=
ENST00000571805.6:c.1548C>T	ENSP00000459312.1:p.Asn516=
ENST00000572334.7:c.1179C>T	ENSP00000506188.1:p.Asn393=
ENST00000572607.2:n.378C>T
ENST00000679361.1:c.1548C>T	ENSP00000504978.1:p.Asn516=
ENST00000679959.1:c.1081C>T	ENSP00000506180.1:n.1081C>T
ENST00000680069.1:c.1548C>T	ENSP00000505145.1:p.Asn516=
ENST00000680114.1:c.1074C>T	ENSP00000505327.1:p.Asn358=
ENST00000680128.1:c.1344C>T	ENSP00000506159.1:p.Asn448=
ENST00000680274.1:n.1110C>T
ENST00000680465.1:c.1548C>T	ENSP00000505997.1:p.Asn516=
ENST00000680641.1:c.*1368C>T	ENSP00000505237.1:n.*1368C>T
ENST00000680702.1:n.453C>T
ENST00000680704.1:c.1179C>T	ENSP00000506453.1:p.Asn393=
ENST00000680872.1:c.*674C>T	ENSP00000506605.1:n.*674C>T
ENST00000680944.1:n.943C>T
ENST00000680958.1:n.1455C>T
ENST00000681096.1:c.1089C>T	ENSP00000506052.1:p.Asn363=
ENST00000681154.1:c.1461C>T	ENSP00000505866.1:p.Asn487=
ENST00000681160.1:c.1179C>T	ENSP00000504905.1:p.Asn393=
ENST00000681317.1:c.1548C>T	ENSP00000505190.1:p.Asn516=
ENST00000681478.1:c.*1368C>T	ENSP00000505041.1:n.*1368C>T
ENST00000681510.1:c.1398C>T	ENSP00000505594.1:p.Asn466=
ENST00000681600.1:n.643C>T
ENST00000681661.1:c.*529C>T	ENSP00000506596.1:n.*529C>T
ENST00000681830.1:c.1097C>T	ENSP00000505322.1:n.1097C>T
ENST00000681897.1:n.800C>T
ENST00000681902.1:c.1548C>T	ENSP00000505328.1:p.Asn516=
ENST00000681917.1:c.1017C>T	ENSP00000505944.1:p.Asn339=
ENST00000681943.1:c.1414C>T	ENSP00000504889.1:n.1414C>T
ENST00000681946.1:c.*529C>T	ENSP00000505563.1:n.*529C>T
ENST00000291074.9:c.1461C>T	ENSP00000291074.5:p.Asn487=
ENST00000389040.9:c.1404C>T	ENSP00000373692.5:p.Asn468=
ENST00000401468.7:c.717C>T	ENSP00000384294.3:p.Asn239=
ENST00000437048.6:c.1548C>T	ENSP00000401435.2:p.Asn516=
ENST00000571805.5:c.1548C>T	ENSP00000459312.1:p.Asn516=
ENST00000572607.1:n.176C>T
ENST00000573028.5:c.*995C>T	ENSP00000458311.1:n.*995C>T
ENST00000574029.5:c.207-44872C>T	ENSP00000459159.1:n.207-44872C>T
ENST00000576149.5:n.1318C>T
NM_001128159.2:c.1548C>T	NP_001121631.1:p.Asn516=
NM_018289.3:c.1461C>T	NP_060759.2:p.Asn487=
XM_011523953.1:c.954C>T	XP_011522255.1:p.Asn318=
XR_934061.1:n.1845C>T
XR_934062.1:n.1600C>T
NM_001366253.1:c.1548C>T	NP_001353182.1:p.Asn516=
NM_001366254.1:c.954C>T	NP_001353183.1:p.Asn318=
XM_017024817.2:c.1398C>T	XP_016880306.1:p.Asn466=
XM_017024818.1:c.1179C>T	XP_016880307.1:p.Asn393=
XR_001752553.2:n.1685C>T
XR_934061.3:n.1835C>T
XR_934062.2:n.1590C>T
NM_001128159.3:c.1548C>T MANE Select	NP_001121631.1:p.Asn516=
NM_001366253.2:c.1548C>T	NP_001353182.1:p.Asn516=
NM_001366254.2:c.954C>T	NP_001353183.1:p.Asn318=
NM_018289.4:c.1461C>T	NP_060759.2:p.Asn487=