Canonical Allele Identifier: CA9924281
Gene: VAPB HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.58441061G>A
GRCh37 chr20:g.57016117G>A
Revel Score:
ENST00000475243 (MANE Select) 0.051
gnomAD v2:
20:57016117 G / A
gnomAD v3:
20:58441061 G / A
gnomAD v4:
chr20-58441061-G-A
Joint Max Group AF 0.00025403 (AFR)
Genomes Max Group AF 0.00013048 (AFR)
Exomes Max Group AF 0.0003227 (AFR)
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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
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