Canonical Allele Identifier: CA9924281

Gene: VAPB

Linked Data

• ClinVar Variation Id: 448852
• ClinVar RCV Id: RCV000518325 ; RCV002254550 ; RCV002350144
• dbSNP Id: rs145483046
• ExAC: 20:57016117 G / A
• gnomAD v2: 20-57016117-G-A
• gnomAD v3: 20-58441061-G-A
• gnomAD v4: 20-58441061-G-A
• MyVariant Identifiers: chr20:g.57016117G>A (hg19) ; chr20:g.58441061G>A (hg38)
• PubMed: PMID:24681403 ; PMID:26362251

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58441061G>A , CM000682.2:g.58441061G>A	GRCh38
NC_000020.10:g.57016117G>A , CM000682.1:g.57016117G>A	GRCh37
NC_000020.9:g.56449523G>A	NCBI36
NG_008073.2:g.56873G>A , LRG_656:g.56873G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475243.6:c.551G>A MANE Select	ENSP00000417175.1:p.Arg184Gln
ENST00000265619.6:n.745G>A
ENST00000395802.7:c.212-3016G>A	ENSP00000379147.3:n.212-3016G>A
ENST00000463370.5:n.895G>A
ENST00000475243.5:c.551G>A	ENSP00000417175.1:p.Arg184Gln
ENST00000476395.1:n.2085G>A
ENST00000520497.1:c.*150G>A	ENSP00000430426.1:n.*150G>A
NM_001195677.1:c.212-3016G>A	NP_001182606.1:n.212-3016G>A
NM_004738.4:c.551G>A , LRG_656t1:c.551G>A	NP_004729.1:p.Arg184Gln
NR_036633.1:n.707G>A
NM_001195677.2:c.212-3016G>A	NP_001182606.1:n.212-3016G>A
NM_004738.5:c.551G>A MANE Select	NP_004729.1:p.Arg184Gln
NR_036633.2:n.597G>A