Canonical Allele Identifier: CA397710207

Gene: VPS53

Linked Data

• MyVariant Identifiers: chr17:g.436083T>G (hg19) ; chr17:g.532843T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.532843T>G , CM000679.2:g.532843T>G	GRCh38
NC_000017.10:g.436083T>G , CM000679.1:g.436083T>G	GRCh37
NC_000017.9:g.382833T>G	NCBI36
NG_034190.1:g.187014A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291074.10:c.1997A>C	ENSP00000291074.5:p.Gln666Pro
ENST00000437048.7:c.2084A>C MANE Select	ENSP00000401435.2:p.Gln695Pro
ENST00000571805.6:c.2084A>C	ENSP00000459312.1:p.Gln695Pro
ENST00000572334.7:c.1715A>C	ENSP00000506188.1:p.Gln572Pro
ENST00000679817.1:c.314A>C	ENSP00000505032.1:p.Gln105Pro
ENST00000680128.1:c.1880A>C	ENSP00000506159.1:p.Gln627Pro
ENST00000680465.1:c.2084A>C	ENSP00000505997.1:p.Gln695Pro
ENST00000680641.1:c.*3333A>C	ENSP00000505237.1:n.*3333A>C
ENST00000680704.1:c.1715A>C	ENSP00000506453.1:p.Gln572Pro
ENST00000680872.1:c.*1210A>C	ENSP00000506605.1:n.*1210A>C
ENST00000681050.1:c.297A>C
ENST00000681096.1:c.1625A>C	ENSP00000506052.1:p.Gln542Pro
ENST00000681103.1:c.314A>C	ENSP00000505892.1:p.Gln105Pro
ENST00000681160.1:c.1715A>C	ENSP00000504905.1:p.Gln572Pro
ENST00000681317.1:c.2015+4185A>C	ENSP00000505190.1:n.2015+4185A>C
ENST00000681478.1:c.*1904A>C	ENSP00000505041.1:n.*1904A>C
ENST00000681510.1:c.1934A>C	ENSP00000505594.1:p.Gln645Pro
ENST00000681600.1:n.1179A>C
ENST00000681661.1:c.*1065A>C	ENSP00000506596.1:n.*1065A>C
ENST00000681858.1:c.314A>C	ENSP00000505044.1:p.Gln105Pro
ENST00000681917.1:c.1553A>C	ENSP00000505944.1:p.Gln518Pro
ENST00000681943.1:c.1802A>C	ENSP00000504889.1:n.1802A>C
ENST00000681946.1:c.*1065A>C	ENSP00000505563.1:n.*1065A>C
ENST00000291074.9:c.1997A>C	ENSP00000291074.5:p.Gln666Pro
ENST00000389040.9:c.1887A>C	ENSP00000373692.5:n.1887A>C
ENST00000401468.7:c.1253A>C	ENSP00000384294.3:p.Gln418Pro
ENST00000437048.6:c.2084A>C	ENSP00000401435.2:p.Gln695Pro
ENST00000570771.1:n.151A>C
ENST00000571805.5:c.2084A>C	ENSP00000459312.1:p.Gln695Pro
ENST00000573028.5:c.*1531A>C	ENSP00000458311.1:n.*1531A>C
ENST00000574029.5:c.207-15204A>C	ENSP00000459159.1:n.207-15204A>C
ENST00000576149.5:n.1854A>C
NM_001128159.2:c.2084A>C	NP_001121631.1:p.Gln695Pro
NM_018289.3:c.1997A>C	NP_060759.2:p.Gln666Pro
XM_011523953.1:c.1490A>C	XP_011522255.1:p.Gln497Pro
XR_934061.1:n.2381A>C
XR_934133.1:n.291-7546T>G
NM_001366253.1:c.2084A>C	NP_001353182.1:p.Gln695Pro
NM_001366254.1:c.1490A>C	NP_001353183.1:p.Gln497Pro
XM_017024817.2:c.1934A>C	XP_016880306.1:p.Gln645Pro
XM_017024818.1:c.1715A>C	XP_016880307.1:p.Gln572Pro
XR_001752553.2:n.2221A>C
XR_934061.3:n.2371A>C
NM_001128159.3:c.2084A>C MANE Select	NP_001121631.1:p.Gln695Pro
NM_001366253.2:c.2084A>C	NP_001353182.1:p.Gln695Pro
NM_001366254.2:c.1490A>C	NP_001353183.1:p.Gln497Pro
NM_018289.4:c.1997A>C	NP_060759.2:p.Gln666Pro