Canonical Allele Identifier: CA397710415

Gene: VPS53

Linked Data

• MyVariant Identifiers: chr17:g.436134A>C (hg19) ; chr17:g.532894A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.532894A>C , CM000679.2:g.532894A>C	GRCh38
NC_000017.10:g.436134A>C , CM000679.1:g.436134A>C	GRCh37
NC_000017.9:g.382884A>C	NCBI36
NG_034190.1:g.186963T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291074.10:c.1946T>G	ENSP00000291074.5:p.Phe649Cys
ENST00000437048.7:c.2033T>G MANE Select	ENSP00000401435.2:p.Phe678Cys
ENST00000571805.6:c.2033T>G	ENSP00000459312.1:p.Phe678Cys
ENST00000572334.7:c.1664T>G	ENSP00000506188.1:p.Phe555Cys
ENST00000679817.1:c.263T>G	ENSP00000505032.1:p.Phe88Cys
ENST00000680128.1:c.1829T>G	ENSP00000506159.1:p.Phe610Cys
ENST00000680465.1:c.2033T>G	ENSP00000505997.1:p.Phe678Cys
ENST00000680641.1:c.*3282T>G	ENSP00000505237.1:n.*3282T>G
ENST00000680704.1:c.1664T>G	ENSP00000506453.1:p.Phe555Cys
ENST00000680872.1:c.*1159T>G	ENSP00000506605.1:n.*1159T>G
ENST00000681050.1:c.246T>G
ENST00000681096.1:c.1574T>G	ENSP00000506052.1:p.Phe525Cys
ENST00000681103.1:c.263T>G	ENSP00000505892.1:p.Phe88Cys
ENST00000681160.1:c.1664T>G	ENSP00000504905.1:p.Phe555Cys
ENST00000681317.1:c.2015+4134T>G	ENSP00000505190.1:n.2015+4134T>G
ENST00000681478.1:c.*1853T>G	ENSP00000505041.1:n.*1853T>G
ENST00000681510.1:c.1883T>G	ENSP00000505594.1:p.Phe628Cys
ENST00000681600.1:n.1128T>G
ENST00000681661.1:c.*1014T>G	ENSP00000506596.1:n.*1014T>G
ENST00000681858.1:c.263T>G	ENSP00000505044.1:p.Phe88Cys
ENST00000681917.1:c.1502T>G	ENSP00000505944.1:p.Phe501Cys
ENST00000681943.1:c.1751T>G	ENSP00000504889.1:n.1751T>G
ENST00000681946.1:c.*1014T>G	ENSP00000505563.1:n.*1014T>G
ENST00000291074.9:c.1946T>G	ENSP00000291074.5:p.Phe649Cys
ENST00000389040.9:c.1836T>G	ENSP00000373692.5:n.1836T>G
ENST00000401468.7:c.1202T>G	ENSP00000384294.3:p.Phe401Cys
ENST00000437048.6:c.2033T>G	ENSP00000401435.2:p.Phe678Cys
ENST00000570771.1:n.100T>G
ENST00000571805.5:c.2033T>G	ENSP00000459312.1:p.Phe678Cys
ENST00000573028.5:c.*1480T>G	ENSP00000458311.1:n.*1480T>G
ENST00000574029.5:c.207-15255T>G	ENSP00000459159.1:n.207-15255T>G
ENST00000576149.5:n.1803T>G
NM_001128159.2:c.2033T>G	NP_001121631.1:p.Phe678Cys
NM_018289.3:c.1946T>G	NP_060759.2:p.Phe649Cys
XM_011523953.1:c.1439T>G	XP_011522255.1:p.Phe480Cys
XR_934061.1:n.2330T>G
XR_934133.1:n.291-7495A>C
NM_001366253.1:c.2033T>G	NP_001353182.1:p.Phe678Cys
NM_001366254.1:c.1439T>G	NP_001353183.1:p.Phe480Cys
XM_017024817.2:c.1883T>G	XP_016880306.1:p.Phe628Cys
XM_017024818.1:c.1664T>G	XP_016880307.1:p.Phe555Cys
XR_001752553.2:n.2170T>G
XR_934061.3:n.2320T>G
NM_001128159.3:c.2033T>G MANE Select	NP_001121631.1:p.Phe678Cys
NM_001366253.2:c.2033T>G	NP_001353182.1:p.Phe678Cys
NM_001366254.2:c.1439T>G	NP_001353183.1:p.Phe480Cys
NM_018289.4:c.1946T>G	NP_060759.2:p.Phe649Cys