Canonical Allele Identifier: CA2219967671
Community Standard Title: NM_018206.6(VPS35):c.1463A= (p.Gln488=)
Gene: VPS35 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.46671766T= , CM000678.2:g.46671766T= GRCh38
NC_000016.9:g.46705678T= , CM000678.1:g.46705678T= GRCh37
NC_000016.8:g.45263179T= NCBI36
NG_029970.1:g.22467A=

Transcript Alleles

HGVS Amino-acid Change
NM_018206.6:c.1463A= MANE Select NP_060676.2:p.Gln488=
ENST00000299138.12:c.1463A= MANE Select ENSP00000299138.7:p.Gln488=
NM_018206.4:c.1463A= NP_060676.2:p.Gln488=
NM_018206.5:c.1463A= NP_060676.2:p.Gln488=
ENST00000299138.11:c.1463A= ENSP00000299138.7:p.Gln488=
ENST00000568784.6:c.*2133A= ENSP00000456274.2:n.*2133A=
ENST00000647959.1:c.*1526A= ENSP00000497702.1:n.*1526A=
XM_005256045.2:c.1262A= XP_005256102.1:p.Gln421=
XM_005256045.3:c.1262A= XP_005256102.1:p.Gln421=
XM_011523227.1:c.1376A= XP_011521529.1:p.Gln459=
XM_011523227.3:c.1376A= XP_011521529.1:p.Gln459=