Canonical Allele Identifier: CA397710267

Gene: VPS53

Linked Data

• MyVariant Identifiers: chr17:g.436097C>T (hg19) ; chr17:g.532857C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.532857C>T , CM000679.2:g.532857C>T	GRCh38
NC_000017.10:g.436097C>T , CM000679.1:g.436097C>T	GRCh37
NC_000017.9:g.382847C>T	NCBI36
NG_034190.1:g.187000G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000291074.10:c.1983G>A	ENSP00000291074.5:p.Met661Ile
ENST00000437048.7:c.2070G>A MANE Select	ENSP00000401435.2:p.Met690Ile
ENST00000571805.6:c.2070G>A	ENSP00000459312.1:p.Met690Ile
ENST00000572334.7:c.1701G>A	ENSP00000506188.1:p.Met567Ile
ENST00000679817.1:c.300G>A	ENSP00000505032.1:p.Met100Ile
ENST00000680128.1:c.1866G>A	ENSP00000506159.1:p.Met622Ile
ENST00000680465.1:c.2070G>A	ENSP00000505997.1:p.Met690Ile
ENST00000680641.1:c.*3319G>A	ENSP00000505237.1:n.*3319G>A
ENST00000680704.1:c.1701G>A	ENSP00000506453.1:p.Met567Ile
ENST00000680872.1:c.*1196G>A	ENSP00000506605.1:n.*1196G>A
ENST00000681050.1:c.283G>A
ENST00000681096.1:c.1611G>A	ENSP00000506052.1:p.Met537Ile
ENST00000681103.1:c.300G>A	ENSP00000505892.1:p.Met100Ile
ENST00000681160.1:c.1701G>A	ENSP00000504905.1:p.Met567Ile
ENST00000681317.1:c.2015+4171G>A	ENSP00000505190.1:n.2015+4171G>A
ENST00000681478.1:c.*1890G>A	ENSP00000505041.1:n.*1890G>A
ENST00000681510.1:c.1920G>A	ENSP00000505594.1:p.Met640Ile
ENST00000681600.1:n.1165G>A
ENST00000681661.1:c.*1051G>A	ENSP00000506596.1:n.*1051G>A
ENST00000681858.1:c.300G>A	ENSP00000505044.1:p.Met100Ile
ENST00000681917.1:c.1539G>A	ENSP00000505944.1:p.Met513Ile
ENST00000681943.1:c.1788G>A	ENSP00000504889.1:n.1788G>A
ENST00000681946.1:c.*1051G>A	ENSP00000505563.1:n.*1051G>A
ENST00000291074.9:c.1983G>A	ENSP00000291074.5:p.Met661Ile
ENST00000389040.9:c.1873G>A	ENSP00000373692.5:n.1873G>A
ENST00000401468.7:c.1239G>A	ENSP00000384294.3:p.Met413Ile
ENST00000437048.6:c.2070G>A	ENSP00000401435.2:p.Met690Ile
ENST00000570771.1:n.137G>A
ENST00000571805.5:c.2070G>A	ENSP00000459312.1:p.Met690Ile
ENST00000573028.5:c.*1517G>A	ENSP00000458311.1:n.*1517G>A
ENST00000574029.5:c.207-15218G>A	ENSP00000459159.1:n.207-15218G>A
ENST00000576149.5:n.1840G>A
NM_001128159.2:c.2070G>A	NP_001121631.1:p.Met690Ile
NM_018289.3:c.1983G>A	NP_060759.2:p.Met661Ile
XM_011523953.1:c.1476G>A	XP_011522255.1:p.Met492Ile
XR_934061.1:n.2367G>A
XR_934133.1:n.291-7532C>T
NM_001366253.1:c.2070G>A	NP_001353182.1:p.Met690Ile
NM_001366254.1:c.1476G>A	NP_001353183.1:p.Met492Ile
XM_017024817.2:c.1920G>A	XP_016880306.1:p.Met640Ile
XM_017024818.1:c.1701G>A	XP_016880307.1:p.Met567Ile
XR_001752553.2:n.2207G>A
XR_934061.3:n.2357G>A
NM_001128159.3:c.2070G>A MANE Select	NP_001121631.1:p.Met690Ile
NM_001366253.2:c.2070G>A	NP_001353182.1:p.Met690Ile
NM_001366254.2:c.1476G>A	NP_001353183.1:p.Met492Ile
NM_018289.4:c.1983G>A	NP_060759.2:p.Met661Ile