Linked Data
ClinVar Variation Id:
339052
dbSNP Id:
rs114786310
ExAC:
20:57245580 G / A
gnomAD v2:
20-57245580-G-A
gnomAD v3:
20-58670524-G-A
gnomAD v4:
20-58670524-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58670524G>A , CM000682.2:g.58670524G>A | GRCh38 |
| NC_000020.10:g.57245580G>A , CM000682.1:g.57245580G>A | GRCh37 |
| NC_000020.9:g.56678986G>A | NCBI36 |
| NG_011831.2:g.24253G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312283.12:c.410G>A (STX16) | ENSP00000312086.8:p.Arg137Gln | |
| ENST00000355957.9:c.518G>A (STX16) | ENSP00000348229.5:p.Arg173Gln | |
| ENST00000358029.8:c.557G>A (STX16) | ENSP00000350723.4:p.Arg186Gln | |
| ENST00000359617.8:c.410G>A (STX16) | ENSP00000352634.4:p.Arg137Gln | |
| ENST00000361770.9:c.515G>A (STX16) | ENSP00000355408.6:p.Arg172Gln | |
| ENST00000361830.7:c.410G>A (STX16) | ENSP00000354445.4:p.Arg137Gln | |
| ENST00000371132.8:c.506G>A (STX16) | ENSP00000360173.4:p.Arg169Gln | |
| ENST00000371141.8:c.569G>A (STX16) MANE Select | ENSP00000360183.4:p.Arg190Gln | |
| ENST00000438253.1:c.395G>A (STX16) | ENSP00000401801.1:p.Arg132Gln | |
| ENST00000460655.5:c.*117G>A (STX16) | ENSP00000435118.1:n.*117G>A | |
| ENST00000464640.5:c.518G>A (STX16) | ENSP00000432414.1:p.Arg173Gln | |
| ENST00000467096.5:c.*7G>A (STX16) | ENSP00000434369.1:n.*7G>A | |
| ENST00000468590.1:n.468G>A (STX16) | ||
| ENST00000476384.5:c.*7G>A (STX16) | ENSP00000437209.1:n.*7G>A | |
| ENST00000483434.5:c.*7G>A (STX16) | ENSP00000432823.1:n.*7G>A | |
| ENST00000490700.5:n.147G>A (STX16) | ||
| ENST00000493301.5:c.387G>A (STX16) | ||
| ENST00000496003.5:n.655G>A (STX16) | ||
| ENST00000496117.5:n.383G>A (STX16) | ||
| ENST00000530122.1:c.569G>A (STX16-NPEPL1) | ENSP00000457522.1:p.Arg190Gln | |
| NM_001001433.2:c.569G>A (STX16) | NP_001001433.1:p.Arg190Gln | |
| NM_001134772.2:c.557G>A (STX16) | NP_001128244.1:p.Arg186Gln | |
| NM_001134773.2:c.518G>A (STX16) | NP_001128245.1:p.Arg173Gln | |
| NM_001204868.1:c.410G>A (STX16) | NP_001191797.1:p.Arg137Gln | |
| NM_003763.5:c.506G>A (STX16) | NP_003754.2:p.Arg169Gln | |
| NR_037941.1:n.1109G>A (STX16) | ||
| NR_037942.1:n.502G>A (STX16) | ||
| NR_037943.1:n.459G>A (STX16) | ||
| NR_037945.1:n.1323G>A (STX16-NPEPL1) | ||
| NM_001001433.3:c.569G>A (STX16) MANE Select | NP_001001433.1:p.Arg190Gln | |
| NM_001134772.3:c.557G>A (STX16) | NP_001128244.1:p.Arg186Gln | |
| NM_001134773.3:c.518G>A (STX16) | NP_001128245.1:p.Arg173Gln | |
| NM_001204868.2:c.410G>A (STX16) | NP_001191797.1:p.Arg137Gln | |
| NM_003763.6:c.506G>A (STX16) | NP_003754.2:p.Arg169Gln | |
| NR_037941.2:n.1079G>A (STX16) | ||
| NR_037942.2:n.472G>A (STX16) | ||
| NR_037943.2:n.429G>A (STX16) |