Canonical Allele Identifier: CA601407

Gene: VPS13D

Linked Data

• ClinVar Variation Id: 1938926
• ClinVar RCV Id: RCV002646596 ; RCV003167566
• dbSNP Id: rs756749455
• ExAC: 1:12318089 C / T
• gnomAD v2: 1-12318089-C-T
• gnomAD v3: 1-12258032-C-T
• gnomAD v4: 1-12258032-C-T
• MyVariant Identifiers: chr1:g.12318089C>T (hg19) ; chr1:g.12258032C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12258032C>T , CM000663.2:g.12258032C>T	GRCh38
NC_000001.10:g.12318089C>T , CM000663.1:g.12318089C>T	GRCh37
NC_000001.9:g.12240676C>T	NCBI36
NG_056877.1:g.32994C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620676.6:c.1039C>T MANE Select	ENSP00000478104.1:p.Arg347Cys
ENST00000613099.4:c.1039C>T	ENSP00000482233.1:p.Arg347Cys
ENST00000620676.4:c.1039C>T	ENSP00000478104.1:p.Arg347Cys
NM_015378.3:c.1039C>T	NP_056193.2:p.Arg347Cys
NM_018156.3:c.1039C>T	NP_060626.2:p.Arg347Cys
NM_015378.4:c.1039C>T MANE Select	NP_056193.2:p.Arg347Cys
NM_018156.4:c.1039C>T	NP_060626.2:p.Arg347Cys