Linked Data
ClinVar Variation Id:
339054
dbSNP Id:
rs185111037
ExAC:
20:57245655 A / T
gnomAD v2:
20-57245655-A-T
gnomAD v3:
20-58670599-A-T
gnomAD v4:
20-58670599-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58670599A>T , CM000682.2:g.58670599A>T | GRCh38 |
| NC_000020.10:g.57245655A>T , CM000682.1:g.57245655A>T | GRCh37 |
| NC_000020.9:g.56679061A>T | NCBI36 |
| NG_011831.2:g.24328A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312283.12:c.485A>T (STX16) | ENSP00000312086.8:p.His162Leu | |
| ENST00000355957.9:c.593A>T (STX16) | ENSP00000348229.5:p.His198Leu | |
| ENST00000358029.8:c.632A>T (STX16) | ENSP00000350723.4:p.His211Leu | |
| ENST00000359617.8:c.485A>T (STX16) | ENSP00000352634.4:p.His162Leu | |
| ENST00000361770.9:c.590A>T (STX16) | ENSP00000355408.6:p.His197Leu | |
| ENST00000361830.7:c.485A>T (STX16) | ENSP00000354445.4:p.His162Leu | |
| ENST00000371132.8:c.581A>T (STX16) | ENSP00000360173.4:p.His194Leu | |
| ENST00000371141.8:c.644A>T (STX16) MANE Select | ENSP00000360183.4:p.His215Leu | |
| ENST00000438253.1:c.470A>T (STX16) | ENSP00000401801.1:p.His157Leu | |
| ENST00000464640.5:c.593A>T (STX16) | ENSP00000432414.1:p.His198Leu | |
| ENST00000467096.5:c.*82A>T (STX16) | ENSP00000434369.1:n.*82A>T | |
| ENST00000468590.1:n.543A>T (STX16) | ||
| ENST00000476384.5:c.*82A>T (STX16) | ENSP00000437209.1:n.*82A>T | |
| ENST00000483434.5:c.*82A>T (STX16) | ENSP00000432823.1:n.*82A>T | |
| ENST00000490700.5:n.222A>T (STX16) | ||
| ENST00000493301.5:c.462A>T (STX16) | ||
| ENST00000496003.5:n.730A>T (STX16) | ||
| ENST00000496117.5:n.458A>T (STX16) | ||
| ENST00000530122.1:c.644A>T (STX16-NPEPL1) | ENSP00000457522.1:p.His215Leu | |
| NM_001001433.2:c.644A>T (STX16) | NP_001001433.1:p.His215Leu | |
| NM_001134772.2:c.632A>T (STX16) | NP_001128244.1:p.His211Leu | |
| NM_001134773.2:c.593A>T (STX16) | NP_001128245.1:p.His198Leu | |
| NM_001204868.1:c.485A>T (STX16) | NP_001191797.1:p.His162Leu | |
| NM_003763.5:c.581A>T (STX16) | NP_003754.2:p.His194Leu | |
| NR_037941.1:n.1184A>T (STX16) | ||
| NR_037942.1:n.577A>T (STX16) | ||
| NR_037943.1:n.534A>T (STX16) | ||
| NR_037945.1:n.1398A>T (STX16-NPEPL1) | ||
| NM_001001433.3:c.644A>T (STX16) MANE Select | NP_001001433.1:p.His215Leu | |
| NM_001134772.3:c.632A>T (STX16) | NP_001128244.1:p.His211Leu | |
| NM_001134773.3:c.593A>T (STX16) | NP_001128245.1:p.His198Leu | |
| NM_001204868.2:c.485A>T (STX16) | NP_001191797.1:p.His162Leu | |
| NM_003763.6:c.581A>T (STX16) | NP_003754.2:p.His194Leu | |
| NR_037941.2:n.1154A>T (STX16) | ||
| NR_037942.2:n.547A>T (STX16) | ||
| NR_037943.2:n.504A>T (STX16) |