Canonical Allele Identifier: CA280214032

Gene: VPS35

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.46674354C>T , CM000678.2:g.46674354C>T	GRCh38
NC_000016.9:g.46708266C>T , CM000678.1:g.46708266C>T	GRCh37
NC_000016.8:g.45265767C>T	NCBI36
NG_029970.1:g.19879G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018206.6:c.1120G>A MANE Select	NP_060676.2:p.Glu374Lys
ENST00000299138.12:c.1120G>A MANE Select	ENSP00000299138.7:p.Glu374Lys
NM_018206.4:c.1120G>A	NP_060676.2:p.Glu374Lys
NM_018206.5:c.1120G>A	NP_060676.2:p.Glu374Lys
ENST00000299138.11:c.1120G>A	ENSP00000299138.7:p.Glu374Lys
ENST00000568642.5:n.392+210G>A
ENST00000568784.6:c.*1790G>A	ENSP00000456274.2:n.*1790G>A
ENST00000647959.1:c.*1183G>A	ENSP00000497702.1:n.*1183G>A
XM_005256045.2:c.919G>A	XP_005256102.1:p.Glu307Lys
XM_005256045.3:c.919G>A	XP_005256102.1:p.Glu307Lys
XM_011523227.1:c.1033G>A	XP_011521529.1:p.Glu345Lys
XM_011523227.3:c.1033G>A	XP_011521529.1:p.Glu345Lys