Canonical Allele Identifier: CA397710244

Gene: VPS53

Linked Data

• MyVariant Identifiers: chr17:g.436092C>G (hg19) ; chr17:g.532852C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.532852C>G , CM000679.2:g.532852C>G	GRCh38
NC_000017.10:g.436092C>G , CM000679.1:g.436092C>G	GRCh37
NC_000017.9:g.382842C>G	NCBI36
NG_034190.1:g.187005G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291074.10:c.1988G>C	ENSP00000291074.5:p.Gly663Ala
ENST00000437048.7:c.2075G>C MANE Select	ENSP00000401435.2:p.Gly692Ala
ENST00000571805.6:c.2075G>C	ENSP00000459312.1:p.Gly692Ala
ENST00000572334.7:c.1706G>C	ENSP00000506188.1:p.Gly569Ala
ENST00000679817.1:c.305G>C	ENSP00000505032.1:p.Gly102Ala
ENST00000680128.1:c.1871G>C	ENSP00000506159.1:p.Gly624Ala
ENST00000680465.1:c.2075G>C	ENSP00000505997.1:p.Gly692Ala
ENST00000680641.1:c.*3324G>C	ENSP00000505237.1:n.*3324G>C
ENST00000680704.1:c.1706G>C	ENSP00000506453.1:p.Gly569Ala
ENST00000680872.1:c.*1201G>C	ENSP00000506605.1:n.*1201G>C
ENST00000681050.1:c.288G>C
ENST00000681096.1:c.1616G>C	ENSP00000506052.1:p.Gly539Ala
ENST00000681103.1:c.305G>C	ENSP00000505892.1:p.Gly102Ala
ENST00000681160.1:c.1706G>C	ENSP00000504905.1:p.Gly569Ala
ENST00000681317.1:c.2015+4176G>C	ENSP00000505190.1:n.2015+4176G>C
ENST00000681478.1:c.*1895G>C	ENSP00000505041.1:n.*1895G>C
ENST00000681510.1:c.1925G>C	ENSP00000505594.1:p.Gly642Ala
ENST00000681600.1:n.1170G>C
ENST00000681661.1:c.*1056G>C	ENSP00000506596.1:n.*1056G>C
ENST00000681858.1:c.305G>C	ENSP00000505044.1:p.Gly102Ala
ENST00000681917.1:c.1544G>C	ENSP00000505944.1:p.Gly515Ala
ENST00000681943.1:c.1793G>C	ENSP00000504889.1:n.1793G>C
ENST00000681946.1:c.*1056G>C	ENSP00000505563.1:n.*1056G>C
ENST00000291074.9:c.1988G>C	ENSP00000291074.5:p.Gly663Ala
ENST00000389040.9:c.1878G>C	ENSP00000373692.5:n.1878G>C
ENST00000401468.7:c.1244G>C	ENSP00000384294.3:p.Gly415Ala
ENST00000437048.6:c.2075G>C	ENSP00000401435.2:p.Gly692Ala
ENST00000570771.1:n.142G>C
ENST00000571805.5:c.2075G>C	ENSP00000459312.1:p.Gly692Ala
ENST00000573028.5:c.*1522G>C	ENSP00000458311.1:n.*1522G>C
ENST00000574029.5:c.207-15213G>C	ENSP00000459159.1:n.207-15213G>C
ENST00000576149.5:n.1845G>C
NM_001128159.2:c.2075G>C	NP_001121631.1:p.Gly692Ala
NM_018289.3:c.1988G>C	NP_060759.2:p.Gly663Ala
XM_011523953.1:c.1481G>C	XP_011522255.1:p.Gly494Ala
XR_934061.1:n.2372G>C
XR_934133.1:n.291-7537C>G
NM_001366253.1:c.2075G>C	NP_001353182.1:p.Gly692Ala
NM_001366254.1:c.1481G>C	NP_001353183.1:p.Gly494Ala
XM_017024817.2:c.1925G>C	XP_016880306.1:p.Gly642Ala
XM_017024818.1:c.1706G>C	XP_016880307.1:p.Gly569Ala
XR_001752553.2:n.2212G>C
XR_934061.3:n.2362G>C
NM_001128159.3:c.2075G>C MANE Select	NP_001121631.1:p.Gly692Ala
NM_001366253.2:c.2075G>C	NP_001353182.1:p.Gly692Ala
NM_001366254.2:c.1481G>C	NP_001353183.1:p.Gly494Ala
NM_018289.4:c.1988G>C	NP_060759.2:p.Gly663Ala