Canonical Allele Identifier: CA397488579

Gene: VPS53

Linked Data

• gnomAD v3: 17-562509-A-G
• gnomAD v4: 17-562509-A-G
• MyVariant Identifiers: chr17:g.465749A>G (hg19) ; chr17:g.562509A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.562509A>G , CM000679.2:g.562509A>G	GRCh38
NC_000017.10:g.465749A>G , CM000679.1:g.465749A>G	GRCh37
NC_000017.9:g.412499A>G	NCBI36
NG_034190.1:g.157348T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000291074.10:c.1463T>C	ENSP00000291074.5:p.Leu488Pro
ENST00000437048.7:c.1550T>C MANE Select	ENSP00000401435.2:p.Leu517Pro
ENST00000571805.6:c.1550T>C	ENSP00000459312.1:p.Leu517Pro
ENST00000572334.7:c.1181T>C	ENSP00000506188.1:p.Leu394Pro
ENST00000572607.2:n.380T>C
ENST00000679361.1:c.1550T>C	ENSP00000504978.1:p.Leu517Pro
ENST00000679959.1:c.1083T>C	ENSP00000506180.1:n.1083T>C
ENST00000680069.1:c.1550T>C	ENSP00000505145.1:p.Leu517Pro
ENST00000680114.1:c.1076T>C	ENSP00000505327.1:p.Leu359Pro
ENST00000680128.1:c.1346T>C	ENSP00000506159.1:p.Leu449Pro
ENST00000680274.1:n.1112T>C
ENST00000680465.1:c.1550T>C	ENSP00000505997.1:p.Leu517Pro
ENST00000680641.1:c.*1370T>C	ENSP00000505237.1:n.*1370T>C
ENST00000680702.1:n.455T>C
ENST00000680704.1:c.1181T>C	ENSP00000506453.1:p.Leu394Pro
ENST00000680872.1:c.*676T>C	ENSP00000506605.1:n.*676T>C
ENST00000680944.1:n.945T>C
ENST00000680958.1:n.1457T>C
ENST00000681096.1:c.1091T>C	ENSP00000506052.1:p.Leu364Pro
ENST00000681154.1:c.1463T>C	ENSP00000505866.1:p.Leu488Pro
ENST00000681160.1:c.1181T>C	ENSP00000504905.1:p.Leu394Pro
ENST00000681317.1:c.1550T>C	ENSP00000505190.1:p.Leu517Pro
ENST00000681478.1:c.*1370T>C	ENSP00000505041.1:n.*1370T>C
ENST00000681510.1:c.1400T>C	ENSP00000505594.1:p.Leu467Pro
ENST00000681600.1:n.645T>C
ENST00000681661.1:c.*531T>C	ENSP00000506596.1:n.*531T>C
ENST00000681830.1:c.1099T>C	ENSP00000505322.1:n.1099T>C
ENST00000681897.1:n.802T>C
ENST00000681902.1:c.1550T>C	ENSP00000505328.1:p.Leu517Pro
ENST00000681917.1:c.1019T>C	ENSP00000505944.1:p.Leu340Pro
ENST00000681943.1:c.1416T>C	ENSP00000504889.1:n.1416T>C
ENST00000681946.1:c.*531T>C	ENSP00000505563.1:n.*531T>C
ENST00000291074.9:c.1463T>C	ENSP00000291074.5:p.Leu488Pro
ENST00000389040.9:c.1406T>C	ENSP00000373692.5:p.Leu469Pro
ENST00000401468.7:c.719T>C	ENSP00000384294.3:p.Leu240Pro
ENST00000437048.6:c.1550T>C	ENSP00000401435.2:p.Leu517Pro
ENST00000571805.5:c.1550T>C	ENSP00000459312.1:p.Leu517Pro
ENST00000572607.1:n.178T>C
ENST00000573028.5:c.*997T>C	ENSP00000458311.1:n.*997T>C
ENST00000574029.5:c.207-44870T>C	ENSP00000459159.1:n.207-44870T>C
ENST00000576149.5:n.1320T>C
NM_001128159.2:c.1550T>C	NP_001121631.1:p.Leu517Pro
NM_018289.3:c.1463T>C	NP_060759.2:p.Leu488Pro
XM_011523953.1:c.956T>C	XP_011522255.1:p.Leu319Pro
XR_934061.1:n.1847T>C
XR_934062.1:n.1602T>C
NM_001366253.1:c.1550T>C	NP_001353182.1:p.Leu517Pro
NM_001366254.1:c.956T>C	NP_001353183.1:p.Leu319Pro
XM_017024817.2:c.1400T>C	XP_016880306.1:p.Leu467Pro
XM_017024818.1:c.1181T>C	XP_016880307.1:p.Leu394Pro
XR_001752553.2:n.1687T>C
XR_934061.3:n.1837T>C
XR_934062.2:n.1592T>C
NM_001128159.3:c.1550T>C MANE Select	NP_001121631.1:p.Leu517Pro
NM_001366253.2:c.1550T>C	NP_001353182.1:p.Leu517Pro
NM_001366254.2:c.956T>C	NP_001353183.1:p.Leu319Pro
NM_018289.4:c.1463T>C	NP_060759.2:p.Leu488Pro