Canonical Allele Identifier: CA10652672
Gene: VAPB HGNC NCBI

Linked Data

ClinVar Variation Id: 338922
ClinVar RCV Id: RCV000273575 RCV000368078
dbSNP Id: rs886056807
gnomAD v2: 20-56964327-C-T
gnomAD v3: 20-58389271-C-T
gnomAD v4: 20-58389271-C-T
MyVariant Identifiers: chr20:g.56964327C>T (hg19) chr20:g.58389271C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58389271C>T , CM000682.2:g.58389271C>T GRCh38
NC_000020.10:g.56964327C>T , CM000682.1:g.56964327C>T GRCh37
NC_000020.9:g.56397733C>T NCBI36
NG_008073.2:g.5083C>T , LRG_656:g.5083C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000475243.6:c.-189C>T MANE Select ENSP00000417175.1:n.-189C>T
ENST00000475243.5:c.-189C>T ENSP00000417175.1:n.-189C>T
NM_001195677.1:c.-189C>T NP_001182606.1:n.-189C>T
NM_004738.4:c.-189C>T , LRG_656t1:c.-189C>T NP_004729.1:n.-189C>T
NR_036633.1:n.153C>T
XR_001754433.2:n.61C>T
NM_001195677.2:c.-189C>T NP_001182606.1:n.-189C>T
NM_004738.5:c.-189C>T MANE Select NP_004729.1:n.-189C>T
NR_036633.2:n.43C>T
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