Canonical Allele Identifier: CA397489010

Gene: VPS53

Linked Data

• MyVariant Identifiers: chr17:g.465847T>G (hg19) ; chr17:g.562607T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.562607T>G , CM000679.2:g.562607T>G	GRCh38
NC_000017.10:g.465847T>G , CM000679.1:g.465847T>G	GRCh37
NC_000017.9:g.412597T>G	NCBI36
NG_034190.1:g.157250A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291074.10:c.1365A>C	ENSP00000291074.5:p.Gln455His
ENST00000437048.7:c.1452A>C MANE Select	ENSP00000401435.2:p.Gln484His
ENST00000571805.6:c.1452A>C	ENSP00000459312.1:p.Gln484His
ENST00000572334.7:c.1083A>C	ENSP00000506188.1:p.Gln361His
ENST00000572607.2:n.282A>C
ENST00000679361.1:c.1452A>C	ENSP00000504978.1:p.Gln484His
ENST00000679959.1:c.985A>C	ENSP00000506180.1:n.985A>C
ENST00000680069.1:c.1452A>C	ENSP00000505145.1:p.Gln484His
ENST00000680114.1:c.978A>C	ENSP00000505327.1:p.Gln326His
ENST00000680128.1:c.1248A>C	ENSP00000506159.1:p.Gln416His
ENST00000680274.1:n.1014A>C
ENST00000680465.1:c.1452A>C	ENSP00000505997.1:p.Gln484His
ENST00000680641.1:c.*1272A>C	ENSP00000505237.1:n.*1272A>C
ENST00000680702.1:n.357A>C
ENST00000680704.1:c.1083A>C	ENSP00000506453.1:p.Gln361His
ENST00000680872.1:c.*578A>C	ENSP00000506605.1:n.*578A>C
ENST00000680944.1:n.847A>C
ENST00000680958.1:n.1359A>C
ENST00000681096.1:c.993A>C	ENSP00000506052.1:p.Gln331His
ENST00000681154.1:c.1365A>C	ENSP00000505866.1:p.Gln455His
ENST00000681160.1:c.1083A>C	ENSP00000504905.1:p.Gln361His
ENST00000681317.1:c.1452A>C	ENSP00000505190.1:p.Gln484His
ENST00000681478.1:c.*1272A>C	ENSP00000505041.1:n.*1272A>C
ENST00000681510.1:c.1302A>C	ENSP00000505594.1:p.Gln434His
ENST00000681600.1:n.547A>C
ENST00000681661.1:c.*433A>C	ENSP00000506596.1:n.*433A>C
ENST00000681830.1:c.1001A>C	ENSP00000505322.1:n.1001A>C
ENST00000681897.1:n.704A>C
ENST00000681902.1:c.1452A>C	ENSP00000505328.1:p.Gln484His
ENST00000681917.1:c.921A>C	ENSP00000505944.1:p.Gln307His
ENST00000681943.1:c.1318A>C	ENSP00000504889.1:n.1318A>C
ENST00000681946.1:c.*433A>C	ENSP00000505563.1:n.*433A>C
ENST00000291074.9:c.1365A>C	ENSP00000291074.5:p.Gln455His
ENST00000389040.9:c.1308A>C	ENSP00000373692.5:p.Gln436His
ENST00000401468.7:c.621A>C	ENSP00000384294.3:p.Gln207His
ENST00000437048.6:c.1452A>C	ENSP00000401435.2:p.Gln484His
ENST00000571805.5:c.1452A>C	ENSP00000459312.1:p.Gln484His
ENST00000572607.1:n.80A>C
ENST00000573028.5:c.*899A>C	ENSP00000458311.1:n.*899A>C
ENST00000574029.5:c.207-44968A>C	ENSP00000459159.1:n.207-44968A>C
ENST00000576149.5:n.1222A>C
NM_001128159.2:c.1452A>C	NP_001121631.1:p.Gln484His
NM_018289.3:c.1365A>C	NP_060759.2:p.Gln455His
XM_011523953.1:c.858A>C	XP_011522255.1:p.Gln286His
XR_934061.1:n.1749A>C
XR_934062.1:n.1504A>C
NM_001366253.1:c.1452A>C	NP_001353182.1:p.Gln484His
NM_001366254.1:c.858A>C	NP_001353183.1:p.Gln286His
XM_017024817.2:c.1302A>C	XP_016880306.1:p.Gln434His
XM_017024818.1:c.1083A>C	XP_016880307.1:p.Gln361His
XR_001752553.2:n.1589A>C
XR_934061.3:n.1739A>C
XR_934062.2:n.1494A>C
NM_001128159.3:c.1452A>C MANE Select	NP_001121631.1:p.Gln484His
NM_001366253.2:c.1452A>C	NP_001353182.1:p.Gln484His
NM_001366254.2:c.858A>C	NP_001353183.1:p.Gln286His
NM_018289.4:c.1365A>C	NP_060759.2:p.Gln455His