Canonical Allele Identifier: CA2617271332
Gene: VAMP1 HGNC NCBI
TAPBPL HGNC NCBI

Linked Data

gnomAD v4: 12-6470946-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6470946C>A , CM000674.2:g.6470946C>A GRCh38
NC_000012.11:g.6580112C>A , CM000674.1:g.6580112C>A GRCh37
NC_000012.10:g.6450373C>A NCBI36
NG_042188.1:g.4954G>T
NG_042188.2:g.4954G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361716.7:c.-415G>T (VAMP1) ENSP00000355122.3:n.-415G>T
XR_001748777.2:n.2213C>A (TAPBPL)
XR_001748778.2:n.2210C>A (TAPBPL)