Canonical Allele Identifier: CA603113570
Gene: VAMP1 HGNC NCBI
TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs894307996
gnomAD v2: 12-6580095-G-C
gnomAD v3: 12-6470929-G-C
gnomAD v4: 12-6470929-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6470929G>C , CM000674.2:g.6470929G>C GRCh38
NC_000012.11:g.6580095G>C , CM000674.1:g.6580095G>C GRCh37
NC_000012.10:g.6450356G>C NCBI36
NG_042188.1:g.4971C>G
NG_042188.2:g.4971C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361716.7:c.-398C>G (VAMP1) ENSP00000355122.3:n.-398C>G
XR_001748777.2:n.2196G>C (TAPBPL)
XR_001748778.2:n.2193G>C (TAPBPL)