Canonical Allele Identifier: CA397710226

Gene: VPS53

Linked Data

• MyVariant Identifiers: chr17:g.436087C>G (hg19) ; chr17:g.532847C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.532847C>G , CM000679.2:g.532847C>G	GRCh38
NC_000017.10:g.436087C>G , CM000679.1:g.436087C>G	GRCh37
NC_000017.9:g.382837C>G	NCBI36
NG_034190.1:g.187010G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291074.10:c.1993G>C	ENSP00000291074.5:p.Glu665Gln
ENST00000437048.7:c.2080G>C MANE Select	ENSP00000401435.2:p.Glu694Gln
ENST00000571805.6:c.2080G>C	ENSP00000459312.1:p.Glu694Gln
ENST00000572334.7:c.1711G>C	ENSP00000506188.1:p.Glu571Gln
ENST00000679817.1:c.310G>C	ENSP00000505032.1:p.Glu104Gln
ENST00000680128.1:c.1876G>C	ENSP00000506159.1:p.Glu626Gln
ENST00000680465.1:c.2080G>C	ENSP00000505997.1:p.Glu694Gln
ENST00000680641.1:c.*3329G>C	ENSP00000505237.1:n.*3329G>C
ENST00000680704.1:c.1711G>C	ENSP00000506453.1:p.Glu571Gln
ENST00000680872.1:c.*1206G>C	ENSP00000506605.1:n.*1206G>C
ENST00000681050.1:c.293G>C
ENST00000681096.1:c.1621G>C	ENSP00000506052.1:p.Glu541Gln
ENST00000681103.1:c.310G>C	ENSP00000505892.1:p.Glu104Gln
ENST00000681160.1:c.1711G>C	ENSP00000504905.1:p.Glu571Gln
ENST00000681317.1:c.2015+4181G>C	ENSP00000505190.1:n.2015+4181G>C
ENST00000681478.1:c.*1900G>C	ENSP00000505041.1:n.*1900G>C
ENST00000681510.1:c.1930G>C	ENSP00000505594.1:p.Glu644Gln
ENST00000681600.1:n.1175G>C
ENST00000681661.1:c.*1061G>C	ENSP00000506596.1:n.*1061G>C
ENST00000681858.1:c.310G>C	ENSP00000505044.1:p.Glu104Gln
ENST00000681917.1:c.1549G>C	ENSP00000505944.1:p.Glu517Gln
ENST00000681943.1:c.1798G>C	ENSP00000504889.1:n.1798G>C
ENST00000681946.1:c.*1061G>C	ENSP00000505563.1:n.*1061G>C
ENST00000291074.9:c.1993G>C	ENSP00000291074.5:p.Glu665Gln
ENST00000389040.9:c.1883G>C	ENSP00000373692.5:n.1883G>C
ENST00000401468.7:c.1249G>C	ENSP00000384294.3:p.Glu417Gln
ENST00000437048.6:c.2080G>C	ENSP00000401435.2:p.Glu694Gln
ENST00000570771.1:n.147G>C
ENST00000571805.5:c.2080G>C	ENSP00000459312.1:p.Glu694Gln
ENST00000573028.5:c.*1527G>C	ENSP00000458311.1:n.*1527G>C
ENST00000574029.5:c.207-15208G>C	ENSP00000459159.1:n.207-15208G>C
ENST00000576149.5:n.1850G>C
NM_001128159.2:c.2080G>C	NP_001121631.1:p.Glu694Gln
NM_018289.3:c.1993G>C	NP_060759.2:p.Glu665Gln
XM_011523953.1:c.1486G>C	XP_011522255.1:p.Glu496Gln
XR_934061.1:n.2377G>C
XR_934133.1:n.291-7542C>G
NM_001366253.1:c.2080G>C	NP_001353182.1:p.Glu694Gln
NM_001366254.1:c.1486G>C	NP_001353183.1:p.Glu496Gln
XM_017024817.2:c.1930G>C	XP_016880306.1:p.Glu644Gln
XM_017024818.1:c.1711G>C	XP_016880307.1:p.Glu571Gln
XR_001752553.2:n.2217G>C
XR_934061.3:n.2367G>C
NM_001128159.3:c.2080G>C MANE Select	NP_001121631.1:p.Glu694Gln
NM_001366253.2:c.2080G>C	NP_001353182.1:p.Glu694Gln
NM_001366254.2:c.1486G>C	NP_001353183.1:p.Glu496Gln
NM_018289.4:c.1993G>C	NP_060759.2:p.Glu665Gln