Canonical Allele Identifier: CA10644162
Gene: VAPB HGNC NCBI

Linked Data

ClinVar Variation Id: 338971
ClinVar RCV Id: RCV000337958 RCV000405480
dbSNP Id: rs886056819
gnomAD v2: 20-57022551-C-T
gnomAD v3: 20-58447495-C-T
gnomAD v4: 20-58447495-C-T
MyVariant Identifiers: chr20:g.57022551C>T (hg19) chr20:g.58447495C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58447495C>T , CM000682.2:g.58447495C>T GRCh38
NC_000020.10:g.57022551C>T , CM000682.1:g.57022551C>T GRCh37
NC_000020.9:g.56455957C>T NCBI36
NG_008073.2:g.63307C>T , LRG_656:g.63307C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000475243.6:c.*3260C>T MANE Select ENSP00000417175.1:n.*3260C>T
ENST00000475243.5:c.*3260C>T ENSP00000417175.1:n.*3260C>T
NM_001195677.1:c.*3330C>T NP_001182606.1:n.*3330C>T
NM_004738.4:c.*3260C>T , LRG_656t1:c.*3260C>T NP_004729.1:n.*3260C>T
NR_036633.1:n.4148C>T
NM_001195677.2:c.*3330C>T NP_001182606.1:n.*3330C>T
NM_004738.5:c.*3260C>T MANE Select NP_004729.1:n.*3260C>T
NR_036633.2:n.4038C>T
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