Linked Data
ClinVar Variation Id:
339048
dbSNP Id:
rs41276950
ExAC:
20:57244396 G / A
gnomAD v2:
20-57244396-G-A
gnomAD v3:
20-58669340-G-A
gnomAD v4:
20-58669340-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58669340G>A , CM000682.2:g.58669340G>A | GRCh38 |
| NC_000020.10:g.57244396G>A , CM000682.1:g.57244396G>A | GRCh37 |
| NC_000020.9:g.56677802G>A | NCBI36 |
| NG_011831.2:g.23069G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312283.12:c.284G>A (STX16) | ENSP00000312086.8:p.Arg95Gln | |
| ENST00000355957.9:c.392G>A (STX16) | ENSP00000348229.5:p.Arg131Gln | |
| ENST00000358029.8:c.431G>A (STX16) | ENSP00000350723.4:p.Arg144Gln | |
| ENST00000359617.8:c.284G>A (STX16) | ENSP00000352634.4:p.Arg95Gln | |
| ENST00000361770.9:c.391G>A (STX16) | ENSP00000355408.6:p.Gly131Arg | |
| ENST00000361830.7:c.284G>A (STX16) | ENSP00000354445.4:p.Arg95Gln | |
| ENST00000371132.8:c.380G>A (STX16) | ENSP00000360173.4:p.Arg127Gln | |
| ENST00000371141.8:c.443G>A (STX16) MANE Select | ENSP00000360183.4:p.Arg148Gln | |
| ENST00000412911.5:c.284G>A (STX16) | ENSP00000416852.1:p.Arg95Gln | |
| ENST00000438253.1:c.269G>A (STX16) | ENSP00000401801.1:p.Arg90Gln | |
| ENST00000458280.5:c.284G>A (STX16) | ENSP00000388348.1:p.Arg95Gln | |
| ENST00000460655.5:c.*105-1172G>A (STX16) | ENSP00000435118.1:n.*105-1172G>A | |
| ENST00000464640.5:c.392G>A (STX16) | ENSP00000432414.1:p.Arg131Gln | |
| ENST00000467096.5:c.343-1172G>A (STX16) | ENSP00000434369.1:n.343-1172G>A | |
| ENST00000468590.1:n.342G>A (STX16) | ||
| ENST00000476384.5:c.235-1172G>A (STX16) | ENSP00000437209.1:n.235-1172G>A | |
| ENST00000483434.5:c.235-1172G>A (STX16) | ENSP00000432823.1:n.235-1172G>A | |
| ENST00000490700.5:n.135-1172G>A (STX16) | ||
| ENST00000493301.5:c.375-1172G>A (STX16) | ||
| ENST00000496003.5:n.643-1172G>A (STX16) | ||
| ENST00000496117.5:n.371-1172G>A (STX16) | ||
| ENST00000530122.1:c.443G>A (STX16-NPEPL1) | ENSP00000457522.1:p.Arg148Gln | |
| NM_001001433.2:c.443G>A (STX16) | NP_001001433.1:p.Arg148Gln | |
| NM_001134772.2:c.431G>A (STX16) | NP_001128244.1:p.Arg144Gln | |
| NM_001134773.2:c.392G>A (STX16) | NP_001128245.1:p.Arg131Gln | |
| NM_001204868.1:c.284G>A (STX16) | NP_001191797.1:p.Arg95Gln | |
| NM_003763.5:c.380G>A (STX16) | NP_003754.2:p.Arg127Gln | |
| NR_037941.1:n.1097-1172G>A (STX16) | ||
| NR_037942.1:n.490-1172G>A (STX16) | ||
| NR_037943.1:n.447-1172G>A (STX16) | ||
| NR_037945.1:n.1197G>A (STX16-NPEPL1) | ||
| NM_001001433.3:c.443G>A (STX16) MANE Select | NP_001001433.1:p.Arg148Gln | |
| NM_001134772.3:c.431G>A (STX16) | NP_001128244.1:p.Arg144Gln | |
| NM_001134773.3:c.392G>A (STX16) | NP_001128245.1:p.Arg131Gln | |
| NM_001204868.2:c.284G>A (STX16) | NP_001191797.1:p.Arg95Gln | |
| NM_003763.6:c.380G>A (STX16) | NP_003754.2:p.Arg127Gln | |
| NR_037941.2:n.1067-1172G>A (STX16) | ||
| NR_037942.2:n.460-1172G>A (STX16) | ||
| NR_037943.2:n.417-1172G>A (STX16) |