Canonical Allele Identifier: CA232348381
Gene: VAMP1 HGNC NCBI
TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs58137459
gnomAD v4: 12-6470900-G-A
MyVariant Identifiers: chr12:g.6580066G>A (hg19) chr12:g.6470900G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6470900G>A , CM000674.2:g.6470900G>A GRCh38
NC_000012.11:g.6580066G>A , CM000674.1:g.6580066G>A GRCh37
NC_000012.10:g.6450327G>A NCBI36
NG_042188.1:g.5000C>T
NG_042188.2:g.5000C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361716.7:c.-369C>T (VAMP1) ENSP00000355122.3:n.-369C>T
XR_001748777.2:n.2167G>A (TAPBPL)
XR_001748778.2:n.2164G>A (TAPBPL)
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