Canonical Allele Identifier: CA9924616

Gene: VAPB

Linked Data

• ClinVar Variation Id: 339001
• ClinVar RCV Id: RCV000351005 ; RCV000407007 ; RCV003326415
• dbSNP Id: rs143424619
• ExAC: 20:57024386 T / G
• gnomAD v2: 20-57024386-T-G
• gnomAD v3: 20-58449330-T-G
• gnomAD v4: 20-58449330-T-G
• MyVariant Identifiers: chr20:g.57024386T>G (hg19) ; chr20:g.58449330T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58449330T>G , CM000682.2:g.58449330T>G	GRCh38
NC_000020.10:g.57024386T>G , CM000682.1:g.57024386T>G	GRCh37
NC_000020.9:g.56457792T>G	NCBI36
NG_008073.2:g.65142T>G , LRG_656:g.65142T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475243.6:c.*5095T>G MANE Select	ENSP00000417175.1:n.*5095T>G
ENST00000475243.5:c.*5095T>G	ENSP00000417175.1:n.*5095T>G
NM_001195677.1:c.*5165T>G	NP_001182606.1:n.*5165T>G
NM_004738.4:c.*5095T>G , LRG_656t1:c.*5095T>G	NP_004729.1:n.*5095T>G
NR_036633.1:n.5983T>G
NM_001195677.2:c.*5165T>G	NP_001182606.1:n.*5165T>G
NM_004738.5:c.*5095T>G MANE Select	NP_004729.1:n.*5095T>G
NR_036633.2:n.5873T>G