Canonical Allele Identifier: CA9924308

Gene: VAPB

Linked Data

• ClinVar Variation Id: 338932
• ClinVar RCV Id: RCV000299440 ; RCV001564242 ; RCV002348093 ; RCV003922478 ; RCV000356646 ; RCV002254548
• dbSNP Id: rs201798741
• ExAC: 20:57019129 G / A
• gnomAD v2: 20-57019129-G-A
• gnomAD v3: 20-58444073-G-A
• gnomAD v4: 20-58444073-G-A
• MyVariant Identifiers: chr20:g.57019129G>A (hg19) ; chr20:g.58444073G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58444073G>A , CM000682.2:g.58444073G>A	GRCh38
NC_000020.10:g.57019129G>A , CM000682.1:g.57019129G>A	GRCh37
NC_000020.9:g.56452535G>A	NCBI36
NG_008073.2:g.59885G>A , LRG_656:g.59885G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475243.6:c.574-4G>A MANE Select	ENSP00000417175.1:n.574-4G>A
ENST00000265619.6:n.768-4G>A
ENST00000395802.7:c.212-4G>A	ENSP00000379147.3:n.212-4G>A
ENST00000463370.5:n.918-4G>A
ENST00000475243.5:c.574-4G>A	ENSP00000417175.1:n.574-4G>A
ENST00000476395.1:n.2108-4G>A
ENST00000520497.1:c.*173-4G>A	ENSP00000430426.1:n.*173-4G>A
NM_001195677.1:c.212-4G>A	NP_001182606.1:n.212-4G>A
NM_004738.4:c.574-4G>A , LRG_656t1:c.574-4G>A	NP_004729.1:n.574-4G>A
NR_036633.1:n.730-4G>A
NM_001195677.2:c.212-4G>A	NP_001182606.1:n.212-4G>A
NM_004738.5:c.574-4G>A MANE Select	NP_004729.1:n.574-4G>A
NR_036633.2:n.620-4G>A