Canonical Allele Identifier: CA8036862

Gene: VPS35

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.46672371A>T , CM000678.2:g.46672371A>T	GRCh38
NC_000016.9:g.46706283A>T , CM000678.1:g.46706283A>T	GRCh37
NC_000016.8:g.45263784A>T	NCBI36
NG_029970.1:g.21862T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299138.12:c.1262T>A MANE Select	ENSP00000299138.7:p.Phe421Tyr
ENST00000647959.1:c.*1325T>A	ENSP00000497702.1:n.*1325T>A
ENST00000299138.11:c.1262T>A	ENSP00000299138.7:p.Phe421Tyr
ENST00000568784.6:c.*1932T>A	ENSP00000456274.2:n.*1932T>A
NM_018206.4:c.1262T>A	NP_060676.2:p.Phe421Tyr
XM_005256045.2:c.1061T>A	XP_005256102.1:p.Phe354Tyr
XM_011523227.1:c.1175T>A	XP_011521529.1:p.Phe392Tyr
NM_018206.5:c.1262T>A	NP_060676.2:p.Phe421Tyr
XM_005256045.3:c.1061T>A	XP_005256102.1:p.Phe354Tyr
XM_011523227.3:c.1175T>A	XP_011521529.1:p.Phe392Tyr
NM_018206.6:c.1262T>A MANE Select	NP_060676.2:p.Phe421Tyr