Canonical Allele Identifier: CA2617271311
Gene: VAMP1 HGNC NCBI
TAPBPL HGNC NCBI

Linked Data

gnomAD v4: 12-6470938-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6470938A>G , CM000674.2:g.6470938A>G GRCh38
NC_000012.11:g.6580104A>G , CM000674.1:g.6580104A>G GRCh37
NC_000012.10:g.6450365A>G NCBI36
NG_042188.1:g.4962T>C
NG_042188.2:g.4962T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361716.7:c.-407T>C (VAMP1) ENSP00000355122.3:n.-407T>C
XR_001748777.2:n.2205A>G (TAPBPL)
XR_001748778.2:n.2202A>G (TAPBPL)