Linked Data
ClinVar Variation Id:
448850
dbSNP Id:
rs776075796
ExAC:
12:6574061 A / G
gnomAD v2:
12-6574061-A-G
gnomAD v3:
12-6464895-A-G
gnomAD v4:
12-6464895-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6464895A>G , CM000674.2:g.6464895A>G | GRCh38 |
| NC_000012.11:g.6574061A>G , CM000674.1:g.6574061A>G | GRCh37 |
| NC_000012.10:g.6444322A>G | NCBI36 |
| NG_042188.1:g.11005T>C | |
| NG_042188.2:g.11005T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361716.8:c.335T>C (VAMP1) | ENSP00000355122.3:p.Ile112Thr | |
| ENST00000396308.4:c.335T>C (VAMP1) MANE Select | ENSP00000379602.3:p.Ile112Thr | |
| ENST00000361716.7:c.335T>C (VAMP1) | ENSP00000355122.3:p.Ile112Thr | |
| ENST00000396308.3:c.335T>C (VAMP1) | ENSP00000379602.3:p.Ile112Thr | |
| ENST00000400911.7:c.335T>C (VAMP1) | ENSP00000383702.3:p.Ile112Thr | |
| ENST00000535180.5:c.335T>C (VAMP1) | ENSP00000444181.1:p.Ile112Thr | |
| ENST00000535927.5:n.354T>C (VAMP1) | ||
| ENST00000538970.5:n.254T>C (VAMP1) | ||
| ENST00000544432.5:n.291T>C (VAMP1) | ||
| ENST00000545700.5:n.1702-980A>G (TAPBPL) | ||
| NM_001297438.1:c.335T>C (VAMP1) | NP_001284367.1:p.Ile112Thr | |
| NM_014231.4:c.335T>C (VAMP1) | NP_055046.1:p.Ile112Thr | |
| NM_016830.3:c.335T>C (VAMP1) | NP_058439.1:p.Ile112Thr | |
| NM_199245.2:c.335T>C (VAMP1) | NP_954740.1:p.Ile112Thr | |
| NR_123717.1:n.576T>C (VAMP1) | ||
| XR_001748777.2:n.1679-2156A>G (TAPBPL) | ||
| XR_001748778.2:n.1679-2159A>G (TAPBPL) | ||
| NM_001297438.2:c.335T>C (VAMP1) | NP_001284367.1:p.Ile112Thr | |
| NM_014231.5:c.335T>C (VAMP1) MANE Select | NP_055046.1:p.Ile112Thr | |
| NM_016830.4:c.335T>C (VAMP1) | NP_058439.1:p.Ile112Thr | |
| NM_199245.3:c.335T>C (VAMP1) | NP_954740.1:p.Ile112Thr | |
| NR_123717.2:n.354T>C (VAMP1) |