Canonical Allele Identifier: CA944348384
Gene: VAMP1 HGNC NCBI
TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs1945762612
gnomAD v3: 12-6470956-G-A
gnomAD v4: 12-6470956-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6470956G>A , CM000674.2:g.6470956G>A GRCh38
NC_000012.11:g.6580122G>A , CM000674.1:g.6580122G>A GRCh37
NC_000012.10:g.6450383G>A NCBI36
NG_042188.1:g.4944C>T
NG_042188.2:g.4944C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361716.7:c.-425C>T (VAMP1) ENSP00000355122.3:n.-425C>T
XR_001748777.2:n.2223G>A (TAPBPL)
XR_001748778.2:n.2220G>A (TAPBPL)
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