Canonical Allele Identifier: CA286686417

Gene: VPS53

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.710545G>A , CM000679.2:g.710545G>A	GRCh38
NC_000017.10:g.613785G>A , CM000679.1:g.613785G>A	GRCh37
NC_000017.9:g.560535G>A	NCBI36
NG_034190.1:g.9312C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001128159.3:c.156C>T MANE Select	NP_001121631.1:p.Phe52=
ENST00000437048.7:c.156C>T MANE Select	ENSP00000401435.2:p.Phe52=
NM_001128159.2:c.156C>T	NP_001121631.1:p.Phe52=
NM_001366253.1:c.156C>T	NP_001353182.1:p.Phe52=
NM_001366253.2:c.156C>T	NP_001353182.1:p.Phe52=
NM_001366254.1:c.-537C>T	NP_001353183.1:n.-537C>T
NM_001366254.2:c.-537C>T	NP_001353183.1:n.-537C>T
NM_018289.3:c.156C>T	NP_060759.2:p.Phe52=
NM_018289.4:c.156C>T	NP_060759.2:p.Phe52=
ENST00000291074.10:c.156C>T	ENSP00000291074.5:p.Phe52=
ENST00000291074.9:c.156C>T	ENSP00000291074.5:p.Phe52=
ENST00000389040.9:c.156C>T	ENSP00000373692.5:p.Phe52=
ENST00000401468.7:c.156C>T	ENSP00000384294.3:p.Phe52=
ENST00000437048.6:c.156C>T	ENSP00000401435.2:p.Phe52=
ENST00000570510.6:n.441C>T
ENST00000571456.1:n.261C>T
ENST00000571456.2:c.156C>T	ENSP00000506589.1:p.Phe52=
ENST00000571805.5:c.156C>T	ENSP00000459312.1:p.Phe52=
ENST00000571805.6:c.156C>T	ENSP00000459312.1:p.Phe52=
ENST00000572259.2:c.156C>T	ENSP00000505287.1:p.Phe52=
ENST00000573028.5:c.156C>T	ENSP00000458311.1:p.Phe52=
ENST00000574029.5:c.156C>T	ENSP00000459159.1:p.Phe52=
ENST00000574029.6:c.156C>T	ENSP00000459159.2:p.Phe52=
ENST00000575100.2:c.156C>T	ENSP00000505967.1:p.Phe52=
ENST00000575207.5:n.238C>T
ENST00000575207.6:c.156C>T	ENSP00000504867.1:p.Phe52=
ENST00000576019.5:c.-214C>T	ENSP00000461429.1:n.-214C>T
ENST00000576019.6:c.156C>T	ENSP00000461429.2:p.Phe52=
ENST00000679361.1:c.156C>T	ENSP00000504978.1:p.Phe52=
ENST00000679865.1:c.156C>T	ENSP00000504898.1:p.Phe52=
ENST00000679961.1:c.156C>T	ENSP00000505902.1:p.Phe52=
ENST00000680069.1:c.156C>T	ENSP00000505145.1:p.Phe52=
ENST00000680128.1:c.156C>T	ENSP00000506159.1:p.Phe52=
ENST00000680241.1:c.156C>T	ENSP00000505475.1:p.Phe52=
ENST00000680465.1:c.156C>T	ENSP00000505997.1:p.Phe52=
ENST00000680641.1:c.156C>T	ENSP00000505237.1:p.Phe52=
ENST00000680704.1:c.-214C>T	ENSP00000506453.1:n.-214C>T
ENST00000680872.1:c.156C>T	ENSP00000506605.1:p.Phe52=
ENST00000680970.1:c.156C>T	ENSP00000505263.1:p.Phe52=
ENST00000681035.1:n.156C>T
ENST00000681133.1:c.156C>T	ENSP00000506475.1:p.Phe52=
ENST00000681154.1:c.156C>T	ENSP00000505866.1:p.Phe52=
ENST00000681229.1:c.156C>T	ENSP00000505837.1:p.Phe52=
ENST00000681295.1:c.156C>T	ENSP00000506514.1:p.Phe52=
ENST00000681317.1:c.156C>T	ENSP00000505190.1:p.Phe52=
ENST00000681423.1:c.156C>T	ENSP00000505115.1:p.Phe52=
ENST00000681442.1:n.121C>T
ENST00000681478.1:c.156C>T	ENSP00000505041.1:p.Phe52=
ENST00000681661.1:c.156C>T	ENSP00000506596.1:p.Phe52=
ENST00000681902.1:c.156C>T	ENSP00000505328.1:p.Phe52=
ENST00000681917.1:c.156C>T	ENSP00000505944.1:p.Phe52=
ENST00000681946.1:c.156C>T	ENSP00000505563.1:p.Phe52=
XM_011523953.1:c.-537C>T	XP_011522255.1:n.-537C>T
XR_001752553.2:n.293C>T
XR_934061.1:n.303C>T
XR_934061.3:n.293C>T
XR_934062.1:n.303C>T
XR_934062.2:n.293C>T