Canonical Allele Identifier: CA2617271297
Gene: VAMP1 HGNC NCBI
TAPBPL HGNC NCBI

Linked Data

gnomAD v4: 12-6470931-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6470931G>A , CM000674.2:g.6470931G>A GRCh38
NC_000012.11:g.6580097G>A , CM000674.1:g.6580097G>A GRCh37
NC_000012.10:g.6450358G>A NCBI36
NG_042188.1:g.4969C>T
NG_042188.2:g.4969C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361716.7:c.-400C>T (VAMP1) ENSP00000355122.3:n.-400C>T
XR_001748777.2:n.2198G>A (TAPBPL)
XR_001748778.2:n.2195G>A (TAPBPL)