Canonical Allele Identifier: CA2219963621
Community Standard Title: NM_018206.6(VPS35):c.1858G= (p.Asp620=)
Gene: VPS35 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.46662452C= , CM000678.2:g.46662452C= GRCh38
NC_000016.9:g.46696364C= , CM000678.1:g.46696364C= GRCh37
NC_000016.8:g.45253865C= NCBI36
NG_029970.1:g.31781G=

Transcript Alleles

HGVS Amino-acid Change
NM_018206.6:c.1858G= MANE Select NP_060676.2:p.Asp620=
ENST00000299138.12:c.1858G= MANE Select ENSP00000299138.7:p.Asp620=
NM_018206.4:c.1858G= NP_060676.2:p.Asp620=
NM_018206.5:c.1858G= NP_060676.2:p.Asp620=
ENST00000299138.11:c.1858G= ENSP00000299138.7:p.Asp620=
ENST00000562420.1:n.496G=
ENST00000568784.6:c.*2528G= ENSP00000456274.2:n.*2528G=
ENST00000647959.1:c.*1921G= ENSP00000497702.1:n.*1921G=
XM_005256045.2:c.1657G= XP_005256102.1:p.Asp553=
XM_005256045.3:c.1657G= XP_005256102.1:p.Asp553=
XM_011523227.1:c.1771G= XP_011521529.1:p.Asp591=
XM_011523227.3:c.1771G= XP_011521529.1:p.Asp591=