Linked Data
ClinVar Variation Id:
619004
ClinVar RCV Id:
RCV000757910
dbSNP Id:
rs1565527137
gnomAD v4:
12-6466224-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6466224C>T , CM000674.2:g.6466224C>T | GRCh38 |
| NC_000012.11:g.6575390C>T , CM000674.1:g.6575390C>T | GRCh37 |
| NC_000012.10:g.6445651C>T | NCBI36 |
| NG_042188.1:g.9676G>A | |
| NG_042188.2:g.9676G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361716.8:c.129+1G>A (VAMP1) | ENSP00000355122.3:n.129+1G>A | |
| ENST00000396308.4:c.129+1G>A (VAMP1) MANE Select | ENSP00000379602.3:n.129+1G>A | |
| ENST00000361716.7:c.129+1G>A (VAMP1) | ENSP00000355122.3:n.129+1G>A | |
| ENST00000396308.3:c.129+1G>A (VAMP1) | ENSP00000379602.3:n.129+1G>A | |
| ENST00000400911.7:c.129+1G>A (VAMP1) | ENSP00000383702.3:n.129+1G>A | |
| ENST00000535180.5:c.129+1G>A (VAMP1) | ENSP00000444181.1:n.129+1G>A | |
| ENST00000535927.5:n.149-224G>A (VAMP1) | ||
| ENST00000538970.5:n.48+1G>A (VAMP1) | ||
| ENST00000539047.1:n.275+1G>A (VAMP1) | ||
| ENST00000544432.5:n.86-224G>A (VAMP1) | ||
| ENST00000545700.5:n.2051C>T (TAPBPL) | ||
| NM_001297438.1:c.129+1G>A (VAMP1) | NP_001284367.1:n.129+1G>A | |
| NM_014231.4:c.129+1G>A (VAMP1) | NP_055046.1:n.129+1G>A | |
| NM_016830.3:c.129+1G>A (VAMP1) | NP_058439.1:n.129+1G>A | |
| NM_199245.2:c.129+1G>A (VAMP1) | NP_954740.1:n.129+1G>A | |
| NR_123717.1:n.371-224G>A (VAMP1) | ||
| XR_001748777.2:n.1679-827C>T (TAPBPL) | ||
| XR_001748778.2:n.1679-830C>T (TAPBPL) | ||
| NM_001297438.2:c.129+1G>A (VAMP1) | NP_001284367.1:n.129+1G>A | |
| NM_014231.5:c.129+1G>A (VAMP1) MANE Select | NP_055046.1:n.129+1G>A | |
| NM_016830.4:c.129+1G>A (VAMP1) | NP_058439.1:n.129+1G>A | |
| NM_199245.3:c.129+1G>A (VAMP1) | NP_954740.1:n.129+1G>A | |
| NR_123717.2:n.149-224G>A (VAMP1) |