Canonical Allele Identifier: CA497239534

Gene: VPS53

Linked Data

• MyVariant Identifiers: chr17:g.465745G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.562505G>A , CM000679.2:g.562505G>A	GRCh38
NC_000017.10:g.465745G>A , CM000679.1:g.465745G>A	GRCh37
NC_000017.9:g.412495G>A	NCBI36
NG_034190.1:g.157352C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000291074.10:c.1467C>T	ENSP00000291074.5:p.Pro489=
ENST00000437048.7:c.1554C>T MANE Select	ENSP00000401435.2:p.Pro518=
ENST00000571805.6:c.1554C>T	ENSP00000459312.1:p.Pro518=
ENST00000572334.7:c.1185C>T	ENSP00000506188.1:p.Pro395=
ENST00000572607.2:n.384C>T
ENST00000679361.1:c.1554C>T	ENSP00000504978.1:p.Pro518=
ENST00000679959.1:c.1087C>T	ENSP00000506180.1:n.1087C>T
ENST00000680069.1:c.1554C>T	ENSP00000505145.1:p.Pro518=
ENST00000680114.1:c.1080C>T	ENSP00000505327.1:p.Pro360=
ENST00000680128.1:c.1350C>T	ENSP00000506159.1:p.Pro450=
ENST00000680274.1:n.1116C>T
ENST00000680465.1:c.1554C>T	ENSP00000505997.1:p.Pro518=
ENST00000680641.1:c.*1374C>T	ENSP00000505237.1:n.*1374C>T
ENST00000680702.1:n.459C>T
ENST00000680704.1:c.1185C>T	ENSP00000506453.1:p.Pro395=
ENST00000680872.1:c.*680C>T	ENSP00000506605.1:n.*680C>T
ENST00000680944.1:n.949C>T
ENST00000680958.1:n.1461C>T
ENST00000681096.1:c.1095C>T	ENSP00000506052.1:p.Pro365=
ENST00000681154.1:c.1467C>T	ENSP00000505866.1:p.Pro489=
ENST00000681160.1:c.1185C>T	ENSP00000504905.1:p.Pro395=
ENST00000681317.1:c.1554C>T	ENSP00000505190.1:p.Pro518=
ENST00000681478.1:c.*1374C>T	ENSP00000505041.1:n.*1374C>T
ENST00000681510.1:c.1404C>T	ENSP00000505594.1:p.Pro468=
ENST00000681600.1:n.649C>T
ENST00000681661.1:c.*535C>T	ENSP00000506596.1:n.*535C>T
ENST00000681830.1:c.1103C>T	ENSP00000505322.1:n.1103C>T
ENST00000681897.1:n.806C>T
ENST00000681902.1:c.1554C>T	ENSP00000505328.1:p.Pro518=
ENST00000681917.1:c.1023C>T	ENSP00000505944.1:p.Pro341=
ENST00000681943.1:c.1420C>T	ENSP00000504889.1:n.1420C>T
ENST00000681946.1:c.*535C>T	ENSP00000505563.1:n.*535C>T
ENST00000291074.9:c.1467C>T	ENSP00000291074.5:p.Pro489=
ENST00000389040.9:c.1410C>T	ENSP00000373692.5:p.Pro470=
ENST00000401468.7:c.723C>T	ENSP00000384294.3:p.Pro241=
ENST00000437048.6:c.1554C>T	ENSP00000401435.2:p.Pro518=
ENST00000571805.5:c.1554C>T	ENSP00000459312.1:p.Pro518=
ENST00000572607.1:n.182C>T
ENST00000573028.5:c.*1001C>T	ENSP00000458311.1:n.*1001C>T
ENST00000574029.5:c.207-44866C>T	ENSP00000459159.1:n.207-44866C>T
ENST00000576149.5:n.1324C>T
NM_001128159.2:c.1554C>T	NP_001121631.1:p.Pro518=
NM_018289.3:c.1467C>T	NP_060759.2:p.Pro489=
XM_011523953.1:c.960C>T	XP_011522255.1:p.Pro320=
XR_934061.1:n.1851C>T
XR_934062.1:n.1606C>T
NM_001366253.1:c.1554C>T	NP_001353182.1:p.Pro518=
NM_001366254.1:c.960C>T	NP_001353183.1:p.Pro320=
XM_017024817.2:c.1404C>T	XP_016880306.1:p.Pro468=
XM_017024818.1:c.1185C>T	XP_016880307.1:p.Pro395=
XR_001752553.2:n.1691C>T
XR_934061.3:n.1841C>T
XR_934062.2:n.1596C>T
NM_001128159.3:c.1554C>T MANE Select	NP_001121631.1:p.Pro518=
NM_001366253.2:c.1554C>T	NP_001353182.1:p.Pro518=
NM_001366254.2:c.960C>T	NP_001353183.1:p.Pro320=
NM_018289.4:c.1467C>T	NP_060759.2:p.Pro489=