Linked Data
ClinVar Variation Id:
448851
ClinVar RCV Id:
RCV000517386
dbSNP Id:
rs71584837
ExAC:
12:6572006 G / A
gnomAD v2:
12-6572006-G-A
gnomAD v3:
12-6462840-G-A
gnomAD v4:
12-6462840-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6462840G>A , CM000674.2:g.6462840G>A | GRCh38 |
| NC_000012.11:g.6572006G>A , CM000674.1:g.6572006G>A | GRCh37 |
| NC_000012.10:g.6442267G>A | NCBI36 |
| NG_042188.1:g.13060C>T | |
| NG_042188.2:g.13060C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361716.8:c.*2036C>T (VAMP1) | ENSP00000355122.3:n.*2036C>T | |
| ENST00000396308.4:c.*1630C>T (VAMP1) MANE Select | ENSP00000379602.3:n.*1630C>T | |
| ENST00000361716.7:c.*2036C>T (VAMP1) | ENSP00000355122.3:n.*2036C>T | |
| ENST00000400911.7:c.343C>T (VAMP1) | ENSP00000383702.3:p.Arg115Trp | |
| ENST00000535180.5:c.*119C>T (VAMP1) | ENSP00000444181.1:n.*119C>T | |
| ENST00000544432.5:n.299C>T (VAMP1) | ||
| ENST00000545700.5:n.1701+597G>A (TAPBPL) | ||
| NM_001297438.1:c.*119C>T (VAMP1) | NP_001284367.1:n.*119C>T | |
| NM_014231.4:c.*1630C>T (VAMP1) | NP_055046.1:n.*1630C>T | |
| NM_016830.3:c.343C>T (VAMP1) | NP_058439.1:p.Arg115Trp | |
| NM_199245.2:c.*2036C>T (VAMP1) | NP_954740.1:n.*2036C>T | |
| NR_123717.1:n.584C>T (VAMP1) | ||
| XR_001748777.2:n.1678+597G>A (TAPBPL) | ||
| XR_001748778.2:n.1678+597G>A (TAPBPL) | ||
| NM_001297438.2:c.*119C>T (VAMP1) | NP_001284367.1:n.*119C>T | |
| NM_014231.5:c.*1630C>T (VAMP1) MANE Select | NP_055046.1:n.*1630C>T | |
| NM_016830.4:c.343C>T (VAMP1) | NP_058439.1:p.Arg115Trp | |
| NM_199245.3:c.*2036C>T (VAMP1) | NP_954740.1:n.*2036C>T | |
| NR_123717.2:n.362C>T (VAMP1) |