Canonical Allele Identifier: CA2617271347
Gene: VAMP1 HGNC NCBI
TAPBPL HGNC NCBI

Linked Data

gnomAD v4: 12-6470950-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6470950T>C , CM000674.2:g.6470950T>C GRCh38
NC_000012.11:g.6580116T>C , CM000674.1:g.6580116T>C GRCh37
NC_000012.10:g.6450377T>C NCBI36
NG_042188.1:g.4950A>G
NG_042188.2:g.4950A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361716.7:c.-419A>G (VAMP1) ENSP00000355122.3:n.-419A>G
XR_001748777.2:n.2217T>C (TAPBPL)
XR_001748778.2:n.2214T>C (TAPBPL)