Canonical Allele Identifier: CA259758

Gene: VPS35

Linked Data

• ClinVar Variation Id: 30196
• ClinVar RCV Id: RCV000023115
• dbSNP Id: rs188286943
• COSMIC: COSM4426230
• MyVariant Identifiers: chr16:g.46696364C>T (hg19) ; chr16:g.46662452C>T (hg38)
• PubMed: PMID:18342564 ; PMID:21763483 ; PMID:22517097 ; PMID:22801713 ; PMID:22991136 ; PMID:25118025 ; PMID:28796472

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000299138.12:c.1858G>A MANE Select	ENSP00000299138.7:p.Asp620Asn
ENST00000647959.1:c.*1921G>A	ENSP00000497702.1:n.*1921G>A
ENST00000299138.11:c.1858G>A	ENSP00000299138.7:p.Asp620Asn
ENST00000562420.1:n.496G>A
ENST00000568784.6:c.*2528G>A	ENSP00000456274.2:n.*2528G>A
NM_018206.4:c.1858G>A	NP_060676.2:p.Asp620Asn
XM_005256045.2:c.1657G>A	XP_005256102.1:p.Asp553Asn
XM_011523227.1:c.1771G>A	XP_011521529.1:p.Asp591Asn
NM_018206.5:c.1858G>A	NP_060676.2:p.Asp620Asn
XM_005256045.3:c.1657G>A	XP_005256102.1:p.Asp553Asn
XM_011523227.3:c.1771G>A	XP_011521529.1:p.Asp591Asn
NM_018206.6:c.1858G>A MANE Select	NP_060676.2:p.Asp620Asn