Canonical Allele Identifier: CA232348451
Gene: VAMP1 HGNC NCBI
TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs894307996
gnomAD v2: 12-6580095-G-A
gnomAD v3: 12-6470929-G-A
gnomAD v4: 12-6470929-G-A
MyVariant Identifiers: chr12:g.6580095G>A (hg19) chr12:g.6470929G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6470929G>A , CM000674.2:g.6470929G>A GRCh38
NC_000012.11:g.6580095G>A , CM000674.1:g.6580095G>A GRCh37
NC_000012.10:g.6450356G>A NCBI36
NG_042188.1:g.4971C>T
NG_042188.2:g.4971C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361716.7:c.-398C>T (VAMP1) ENSP00000355122.3:n.-398C>T
XR_001748777.2:n.2196G>A (TAPBPL)
XR_001748778.2:n.2193G>A (TAPBPL)
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