Canonical Allele Identifier: CA2617271284
Gene: VAMP1 HGNC NCBI
TAPBPL HGNC NCBI

Linked Data

gnomAD v4: 12-6470928-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6470928G>T , CM000674.2:g.6470928G>T GRCh38
NC_000012.11:g.6580094G>T , CM000674.1:g.6580094G>T GRCh37
NC_000012.10:g.6450355G>T NCBI36
NG_042188.1:g.4972C>A
NG_042188.2:g.4972C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361716.7:c.-397C>A (VAMP1) ENSP00000355122.3:n.-397C>A
XR_001748777.2:n.2195G>T (TAPBPL)
XR_001748778.2:n.2192G>T (TAPBPL)