Linked Data
ClinVar Variation Id:
339046
dbSNP Id:
rs115046538
ExAC:
20:57242618 C / T
gnomAD v2:
20-57242618-C-T
gnomAD v3:
20-58667562-C-T
gnomAD v4:
20-58667562-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58667562C>T , CM000682.2:g.58667562C>T | GRCh38 |
| NC_000020.10:g.57242618C>T , CM000682.1:g.57242618C>T | GRCh37 |
| NC_000020.9:g.56676024C>T | NCBI36 |
| NG_011831.2:g.21291C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312283.12:c.58C>T (STX16) | ENSP00000312086.8:p.Arg20Trp | |
| ENST00000355957.9:c.166C>T (STX16) | ENSP00000348229.5:p.Arg56Trp | |
| ENST00000358029.8:c.205C>T (STX16) | ENSP00000350723.4:p.Arg69Trp | |
| ENST00000359617.8:c.58C>T (STX16) | ENSP00000352634.4:p.Arg20Trp | |
| ENST00000361770.9:c.166C>T (STX16) | ENSP00000355408.6:p.Arg56Trp | |
| ENST00000361830.7:c.58C>T (STX16) | ENSP00000354445.4:p.Arg20Trp | |
| ENST00000371132.8:c.154C>T (STX16) | ENSP00000360173.4:p.Arg52Trp | |
| ENST00000371141.8:c.217C>T (STX16) MANE Select | ENSP00000360183.4:p.Arg73Trp | |
| ENST00000412911.5:c.58C>T (STX16) | ENSP00000416852.1:p.Arg20Trp | |
| ENST00000438253.1:c.43C>T (STX16) | ENSP00000401801.1:p.Arg15Trp | |
| ENST00000458280.5:c.58C>T (STX16) | ENSP00000388348.1:p.Arg20Trp | |
| ENST00000460655.5:c.58C>T (STX16) | ENSP00000435118.1:p.Arg20Trp | |
| ENST00000464640.5:c.166C>T (STX16) | ENSP00000432414.1:p.Arg56Trp | |
| ENST00000467096.5:c.166C>T (STX16) | ENSP00000434369.1:p.Arg56Trp | |
| ENST00000468590.1:n.127C>T (STX16) | ||
| ENST00000476384.5:c.58C>T (STX16) | ENSP00000437209.1:p.Arg20Trp | |
| ENST00000483434.5:c.58C>T (STX16) | ENSP00000432823.1:p.Arg20Trp | |
| ENST00000490700.5:n.135-2950C>T (STX16) | ||
| ENST00000493301.5:c.198C>T (STX16) | ||
| ENST00000496003.5:n.466C>T (STX16) | ||
| ENST00000496117.5:n.194C>T (STX16) | ||
| ENST00000530122.1:c.217C>T (STX16-NPEPL1) | ENSP00000457522.1:p.Arg73Trp | |
| NM_001001433.2:c.217C>T (STX16) | NP_001001433.1:p.Arg73Trp | |
| NM_001134772.2:c.205C>T (STX16) | NP_001128244.1:p.Arg69Trp | |
| NM_001134773.2:c.166C>T (STX16) | NP_001128245.1:p.Arg56Trp | |
| NM_001204868.1:c.58C>T (STX16) | NP_001191797.1:p.Arg20Trp | |
| NM_003763.5:c.154C>T (STX16) | NP_003754.2:p.Arg52Trp | |
| NR_037941.1:n.920C>T (STX16) | ||
| NR_037942.1:n.313C>T (STX16) | ||
| NR_037943.1:n.270C>T (STX16) | ||
| NR_037945.1:n.971C>T (STX16-NPEPL1) | ||
| NM_001001433.3:c.217C>T (STX16) MANE Select | NP_001001433.1:p.Arg73Trp | |
| NM_001134772.3:c.205C>T (STX16) | NP_001128244.1:p.Arg69Trp | |
| NM_001134773.3:c.166C>T (STX16) | NP_001128245.1:p.Arg56Trp | |
| NM_001204868.2:c.58C>T (STX16) | NP_001191797.1:p.Arg20Trp | |
| NM_003763.6:c.154C>T (STX16) | NP_003754.2:p.Arg52Trp | |
| NR_037941.2:n.890C>T (STX16) | ||
| NR_037942.2:n.283C>T (STX16) | ||
| NR_037943.2:n.240C>T (STX16) |