Linked Data
ClinVar Variation Id:
339053
dbSNP Id:
rs147137636
ExAC:
20:57245596 G / A
gnomAD v2:
20-57245596-G-A
gnomAD v3:
20-58670540-G-A
gnomAD v4:
20-58670540-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58670540G>A , CM000682.2:g.58670540G>A | GRCh38 |
| NC_000020.10:g.57245596G>A , CM000682.1:g.57245596G>A | GRCh37 |
| NC_000020.9:g.56679002G>A | NCBI36 |
| NG_011831.2:g.24269G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312283.12:c.426G>A (STX16) | ENSP00000312086.8:p.Gln142= | |
| ENST00000355957.9:c.534G>A (STX16) | ENSP00000348229.5:p.Gln178= | |
| ENST00000358029.8:c.573G>A (STX16) | ENSP00000350723.4:p.Gln191= | |
| ENST00000359617.8:c.426G>A (STX16) | ENSP00000352634.4:p.Gln142= | |
| ENST00000361770.9:c.531G>A (STX16) | ENSP00000355408.6:p.Gln177= | |
| ENST00000361830.7:c.426G>A (STX16) | ENSP00000354445.4:p.Gln142= | |
| ENST00000371132.8:c.522G>A (STX16) | ENSP00000360173.4:p.Gln174= | |
| ENST00000371141.8:c.585G>A (STX16) MANE Select | ENSP00000360183.4:p.Gln195= | |
| ENST00000438253.1:c.411G>A (STX16) | ENSP00000401801.1:p.Gln137= | |
| ENST00000460655.5:c.*133G>A (STX16) | ENSP00000435118.1:n.*133G>A | |
| ENST00000464640.5:c.534G>A (STX16) | ENSP00000432414.1:p.Gln178= | |
| ENST00000467096.5:c.*23G>A (STX16) | ENSP00000434369.1:n.*23G>A | |
| ENST00000468590.1:n.484G>A (STX16) | ||
| ENST00000476384.5:c.*23G>A (STX16) | ENSP00000437209.1:n.*23G>A | |
| ENST00000483434.5:c.*23G>A (STX16) | ENSP00000432823.1:n.*23G>A | |
| ENST00000490700.5:n.163G>A (STX16) | ||
| ENST00000493301.5:c.403G>A (STX16) | ||
| ENST00000496003.5:n.671G>A (STX16) | ||
| ENST00000496117.5:n.399G>A (STX16) | ||
| ENST00000530122.1:c.585G>A (STX16-NPEPL1) | ENSP00000457522.1:p.Gln195= | |
| NM_001001433.2:c.585G>A (STX16) | NP_001001433.1:p.Gln195= | |
| NM_001134772.2:c.573G>A (STX16) | NP_001128244.1:p.Gln191= | |
| NM_001134773.2:c.534G>A (STX16) | NP_001128245.1:p.Gln178= | |
| NM_001204868.1:c.426G>A (STX16) | NP_001191797.1:p.Gln142= | |
| NM_003763.5:c.522G>A (STX16) | NP_003754.2:p.Gln174= | |
| NR_037941.1:n.1125G>A (STX16) | ||
| NR_037942.1:n.518G>A (STX16) | ||
| NR_037943.1:n.475G>A (STX16) | ||
| NR_037945.1:n.1339G>A (STX16-NPEPL1) | ||
| NM_001001433.3:c.585G>A (STX16) MANE Select | NP_001001433.1:p.Gln195= | |
| NM_001134772.3:c.573G>A (STX16) | NP_001128244.1:p.Gln191= | |
| NM_001134773.3:c.534G>A (STX16) | NP_001128245.1:p.Gln178= | |
| NM_001204868.2:c.426G>A (STX16) | NP_001191797.1:p.Gln142= | |
| NM_003763.6:c.522G>A (STX16) | NP_003754.2:p.Gln174= | |
| NR_037941.2:n.1095G>A (STX16) | ||
| NR_037942.2:n.488G>A (STX16) | ||
| NR_037943.2:n.445G>A (STX16) |