Canonical Allele Identifier: CA232348447
Gene: VAMP1 HGNC NCBI
TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs1056999931
gnomAD v2: 12-6580091-C-T
gnomAD v3: 12-6470925-C-T
gnomAD v4: 12-6470925-C-T
MyVariant Identifiers: chr12:g.6580091C>T (hg19) chr12:g.6470925C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6470925C>T , CM000674.2:g.6470925C>T GRCh38
NC_000012.11:g.6580091C>T , CM000674.1:g.6580091C>T GRCh37
NC_000012.10:g.6450352C>T NCBI36
NG_042188.1:g.4975G>A
NG_042188.2:g.4975G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361716.7:c.-394G>A (VAMP1) ENSP00000355122.3:n.-394G>A
XR_001748777.2:n.2192C>T (TAPBPL)
XR_001748778.2:n.2189C>T (TAPBPL)
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