Canonical Allele Identifier: CA219846
Gene: VAPB HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.58418289C>T
GRCh37 chr20:g.56993345C>T
Revel Score:
ENST00000475243 (MANE Select) 0.784
ENST00000395802 0.784
gnomAD v4:
chr20-58418289-C-T
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar Allele:
39467
ClinVar RCV:
RCV000023467
RCV000059634
ClinVar Variation:
30510
dbSNP:
281875284
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58418289C>T , CM000682.2:g.58418289C>T GRCh38
NC_000020.10:g.56993345C>T , CM000682.1:g.56993345C>T GRCh37
NC_000020.9:g.56426751C>T NCBI36
NG_008073.2:g.34101C>T , LRG_656:g.34101C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000475243.6:c.137C>T MANE Select ENSP00000417175.1:p.Thr46Ile
ENST00000265619.6:n.435C>T
ENST00000395802.7:c.137C>T ENSP00000379147.3:p.Thr46Ile
ENST00000475243.5:c.137C>T ENSP00000417175.1:p.Thr46Ile
ENST00000520497.1:c.137C>T ENSP00000430426.1:p.Thr46Ile
NM_001195677.1:c.137C>T NP_001182606.1:p.Thr46Ile
NM_004738.4:c.137C>T , LRG_656t1:c.137C>T NP_004729.1:p.Thr46Ile
NR_036633.1:n.478C>T
XR_001754433.2:n.386C>T
NM_001195677.2:c.137C>T NP_001182606.1:p.Thr46Ile
NM_004738.5:c.137C>T MANE Select NP_004729.1:p.Thr46Ile
NR_036633.2:n.368C>T
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