Canonical Allele Identifier: CA944348392
Gene: VAMP1 HGNC NCBI
TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs1945762917
gnomAD v3: 12-6470969-T-G
gnomAD v4: 12-6470969-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6470969T>G , CM000674.2:g.6470969T>G GRCh38
NC_000012.11:g.6580135T>G , CM000674.1:g.6580135T>G GRCh37
NC_000012.10:g.6450396T>G NCBI36
NG_042188.1:g.4931A>C
NG_042188.2:g.4931A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361716.7:c.-438A>C (VAMP1) ENSP00000355122.3:n.-438A>C
XR_001748777.2:n.2236T>G (TAPBPL)
XR_001748778.2:n.2233T>G (TAPBPL)