Canonical Allele Identifier: CA397488563

Gene: VPS53

Linked Data

• MyVariant Identifiers: chr17:g.465746G>A (hg19) ; chr17:g.562506G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.562506G>A , CM000679.2:g.562506G>A	GRCh38
NC_000017.10:g.465746G>A , CM000679.1:g.465746G>A	GRCh37
NC_000017.9:g.412496G>A	NCBI36
NG_034190.1:g.157351C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000291074.10:c.1466C>T	ENSP00000291074.5:p.Pro489Leu
ENST00000437048.7:c.1553C>T MANE Select	ENSP00000401435.2:p.Pro518Leu
ENST00000571805.6:c.1553C>T	ENSP00000459312.1:p.Pro518Leu
ENST00000572334.7:c.1184C>T	ENSP00000506188.1:p.Pro395Leu
ENST00000572607.2:n.383C>T
ENST00000679361.1:c.1553C>T	ENSP00000504978.1:p.Pro518Leu
ENST00000679959.1:c.1086C>T	ENSP00000506180.1:n.1086C>T
ENST00000680069.1:c.1553C>T	ENSP00000505145.1:p.Pro518Leu
ENST00000680114.1:c.1079C>T	ENSP00000505327.1:p.Pro360Leu
ENST00000680128.1:c.1349C>T	ENSP00000506159.1:p.Pro450Leu
ENST00000680274.1:n.1115C>T
ENST00000680465.1:c.1553C>T	ENSP00000505997.1:p.Pro518Leu
ENST00000680641.1:c.*1373C>T	ENSP00000505237.1:n.*1373C>T
ENST00000680702.1:n.458C>T
ENST00000680704.1:c.1184C>T	ENSP00000506453.1:p.Pro395Leu
ENST00000680872.1:c.*679C>T	ENSP00000506605.1:n.*679C>T
ENST00000680944.1:n.948C>T
ENST00000680958.1:n.1460C>T
ENST00000681096.1:c.1094C>T	ENSP00000506052.1:p.Pro365Leu
ENST00000681154.1:c.1466C>T	ENSP00000505866.1:p.Pro489Leu
ENST00000681160.1:c.1184C>T	ENSP00000504905.1:p.Pro395Leu
ENST00000681317.1:c.1553C>T	ENSP00000505190.1:p.Pro518Leu
ENST00000681478.1:c.*1373C>T	ENSP00000505041.1:n.*1373C>T
ENST00000681510.1:c.1403C>T	ENSP00000505594.1:p.Pro468Leu
ENST00000681600.1:n.648C>T
ENST00000681661.1:c.*534C>T	ENSP00000506596.1:n.*534C>T
ENST00000681830.1:c.1102C>T	ENSP00000505322.1:n.1102C>T
ENST00000681897.1:n.805C>T
ENST00000681902.1:c.1553C>T	ENSP00000505328.1:p.Pro518Leu
ENST00000681917.1:c.1022C>T	ENSP00000505944.1:p.Pro341Leu
ENST00000681943.1:c.1419C>T	ENSP00000504889.1:n.1419C>T
ENST00000681946.1:c.*534C>T	ENSP00000505563.1:n.*534C>T
ENST00000291074.9:c.1466C>T	ENSP00000291074.5:p.Pro489Leu
ENST00000389040.9:c.1409C>T	ENSP00000373692.5:p.Pro470Leu
ENST00000401468.7:c.722C>T	ENSP00000384294.3:p.Pro241Leu
ENST00000437048.6:c.1553C>T	ENSP00000401435.2:p.Pro518Leu
ENST00000571805.5:c.1553C>T	ENSP00000459312.1:p.Pro518Leu
ENST00000572607.1:n.181C>T
ENST00000573028.5:c.*1000C>T	ENSP00000458311.1:n.*1000C>T
ENST00000574029.5:c.207-44867C>T	ENSP00000459159.1:n.207-44867C>T
ENST00000576149.5:n.1323C>T
NM_001128159.2:c.1553C>T	NP_001121631.1:p.Pro518Leu
NM_018289.3:c.1466C>T	NP_060759.2:p.Pro489Leu
XM_011523953.1:c.959C>T	XP_011522255.1:p.Pro320Leu
XR_934061.1:n.1850C>T
XR_934062.1:n.1605C>T
NM_001366253.1:c.1553C>T	NP_001353182.1:p.Pro518Leu
NM_001366254.1:c.959C>T	NP_001353183.1:p.Pro320Leu
XM_017024817.2:c.1403C>T	XP_016880306.1:p.Pro468Leu
XM_017024818.1:c.1184C>T	XP_016880307.1:p.Pro395Leu
XR_001752553.2:n.1690C>T
XR_934061.3:n.1840C>T
XR_934062.2:n.1595C>T
NM_001128159.3:c.1553C>T MANE Select	NP_001121631.1:p.Pro518Leu
NM_001366253.2:c.1553C>T	NP_001353182.1:p.Pro518Leu
NM_001366254.2:c.959C>T	NP_001353183.1:p.Pro320Leu
NM_018289.4:c.1466C>T	NP_060759.2:p.Pro489Leu