Canonical Allele Identifier: CA397488594

Gene: VPS53

Linked Data

• MyVariant Identifiers: chr17:g.465753T>G (hg19) ; chr17:g.562513T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.562513T>G , CM000679.2:g.562513T>G	GRCh38
NC_000017.10:g.465753T>G , CM000679.1:g.465753T>G	GRCh37
NC_000017.9:g.412503T>G	NCBI36
NG_034190.1:g.157344A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000291074.10:c.1459A>C	ENSP00000291074.5:p.Asn487His
ENST00000437048.7:c.1546A>C MANE Select	ENSP00000401435.2:p.Asn516His
ENST00000571805.6:c.1546A>C	ENSP00000459312.1:p.Asn516His
ENST00000572334.7:c.1177A>C	ENSP00000506188.1:p.Asn393His
ENST00000572607.2:n.376A>C
ENST00000679361.1:c.1546A>C	ENSP00000504978.1:p.Asn516His
ENST00000679959.1:c.1079A>C	ENSP00000506180.1:n.1079A>C
ENST00000680069.1:c.1546A>C	ENSP00000505145.1:p.Asn516His
ENST00000680114.1:c.1072A>C	ENSP00000505327.1:p.Asn358His
ENST00000680128.1:c.1342A>C	ENSP00000506159.1:p.Asn448His
ENST00000680274.1:n.1108A>C
ENST00000680465.1:c.1546A>C	ENSP00000505997.1:p.Asn516His
ENST00000680641.1:c.*1366A>C	ENSP00000505237.1:n.*1366A>C
ENST00000680702.1:n.451A>C
ENST00000680704.1:c.1177A>C	ENSP00000506453.1:p.Asn393His
ENST00000680872.1:c.*672A>C	ENSP00000506605.1:n.*672A>C
ENST00000680944.1:n.941A>C
ENST00000680958.1:n.1453A>C
ENST00000681096.1:c.1087A>C	ENSP00000506052.1:p.Asn363His
ENST00000681154.1:c.1459A>C	ENSP00000505866.1:p.Asn487His
ENST00000681160.1:c.1177A>C	ENSP00000504905.1:p.Asn393His
ENST00000681317.1:c.1546A>C	ENSP00000505190.1:p.Asn516His
ENST00000681478.1:c.*1366A>C	ENSP00000505041.1:n.*1366A>C
ENST00000681510.1:c.1396A>C	ENSP00000505594.1:p.Asn466His
ENST00000681600.1:n.641A>C
ENST00000681661.1:c.*527A>C	ENSP00000506596.1:n.*527A>C
ENST00000681830.1:c.1095A>C	ENSP00000505322.1:n.1095A>C
ENST00000681897.1:n.798A>C
ENST00000681902.1:c.1546A>C	ENSP00000505328.1:p.Asn516His
ENST00000681917.1:c.1015A>C	ENSP00000505944.1:p.Asn339His
ENST00000681943.1:c.1412A>C	ENSP00000504889.1:n.1412A>C
ENST00000681946.1:c.*527A>C	ENSP00000505563.1:n.*527A>C
ENST00000291074.9:c.1459A>C	ENSP00000291074.5:p.Asn487His
ENST00000389040.9:c.1402A>C	ENSP00000373692.5:p.Asn468His
ENST00000401468.7:c.715A>C	ENSP00000384294.3:p.Asn239His
ENST00000437048.6:c.1546A>C	ENSP00000401435.2:p.Asn516His
ENST00000571805.5:c.1546A>C	ENSP00000459312.1:p.Asn516His
ENST00000572607.1:n.174A>C
ENST00000573028.5:c.*993A>C	ENSP00000458311.1:n.*993A>C
ENST00000574029.5:c.207-44874A>C	ENSP00000459159.1:n.207-44874A>C
ENST00000576149.5:n.1316A>C
NM_001128159.2:c.1546A>C	NP_001121631.1:p.Asn516His
NM_018289.3:c.1459A>C	NP_060759.2:p.Asn487His
XM_011523953.1:c.952A>C	XP_011522255.1:p.Asn318His
XR_934061.1:n.1843A>C
XR_934062.1:n.1598A>C
NM_001366253.1:c.1546A>C	NP_001353182.1:p.Asn516His
NM_001366254.1:c.952A>C	NP_001353183.1:p.Asn318His
XM_017024817.2:c.1396A>C	XP_016880306.1:p.Asn466His
XM_017024818.1:c.1177A>C	XP_016880307.1:p.Asn393His
XR_001752553.2:n.1683A>C
XR_934061.3:n.1833A>C
XR_934062.2:n.1588A>C
NM_001128159.3:c.1546A>C MANE Select	NP_001121631.1:p.Asn516His
NM_001366253.2:c.1546A>C	NP_001353182.1:p.Asn516His
NM_001366254.2:c.952A>C	NP_001353183.1:p.Asn318His
NM_018289.4:c.1459A>C	NP_060759.2:p.Asn487His