Linked Data
ClinVar Variation Id:
339045
dbSNP Id:
rs73598392
ExAC:
20:57234687 C / T
gnomAD v2:
20-57234687-C-T
gnomAD v3:
20-58659631-C-T
gnomAD v4:
20-58659631-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58659631C>T , CM000682.2:g.58659631C>T | GRCh38 |
| NC_000020.10:g.57234687C>T , CM000682.1:g.57234687C>T | GRCh37 |
| NC_000020.9:g.56668093C>T | NCBI36 |
| NG_011831.2:g.13360C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312283.12:c.-16+7544C>T (STX16) | ENSP00000312086.8:n.-16+7544C>T | |
| ENST00000355957.9:c.90C>T (STX16) | ENSP00000348229.5:p.Asp30= | |
| ENST00000358029.8:c.132+7493C>T (STX16) | ENSP00000350723.4:n.132+7493C>T | |
| ENST00000359617.8:c.-19C>T (STX16) | ENSP00000352634.4:n.-19C>T | |
| ENST00000361770.9:c.90C>T (STX16) | ENSP00000355408.6:p.Asp30= | |
| ENST00000361830.7:c.-19+7493C>T (STX16) | ENSP00000354445.4:n.-19+7493C>T | |
| ENST00000371132.8:c.81+7544C>T (STX16) | ENSP00000360173.4:n.81+7544C>T | |
| ENST00000371141.8:c.141C>T (STX16) MANE Select | ENSP00000360183.4:p.Asp47= | |
| ENST00000412911.5:c.-19C>T (STX16) | ENSP00000416852.1:n.-19C>T | |
| ENST00000458280.5:c.-19C>T (STX16) | ENSP00000388348.1:n.-19C>T | |
| ENST00000460655.5:c.-19C>T (STX16) | ENSP00000435118.1:n.-19C>T | |
| ENST00000464640.5:c.90C>T (STX16) | ENSP00000432414.1:p.Asp30= | |
| ENST00000467096.5:c.90C>T (STX16) | ENSP00000434369.1:p.Asp30= | |
| ENST00000468590.1:n.51C>T (STX16) | ||
| ENST00000476384.5:c.-134+7544C>T (STX16) | ENSP00000437209.1:n.-134+7544C>T | |
| ENST00000483434.5:c.-16+7544C>T (STX16) | ENSP00000432823.1:n.-16+7544C>T | |
| ENST00000490700.5:n.134+7544C>T (STX16) | ||
| ENST00000493301.5:c.122C>T (STX16) | ||
| ENST00000496003.5:n.393+7493C>T (STX16) | ||
| ENST00000496117.5:n.118C>T (STX16) | ||
| ENST00000530122.1:c.141C>T (STX16-NPEPL1) | ENSP00000457522.1:p.Asp47= | |
| NM_001001433.2:c.141C>T (STX16) | NP_001001433.1:p.Asp47= | |
| NM_001134772.2:c.132+7493C>T (STX16) | NP_001128244.1:n.132+7493C>T | |
| NM_001134773.2:c.90C>T (STX16) | NP_001128245.1:p.Asp30= | |
| NM_001204868.1:c.-19C>T (STX16) | NP_001191797.1:n.-19C>T | |
| NM_003763.5:c.81+7544C>T (STX16) | NP_003754.2:n.81+7544C>T | |
| NR_037941.1:n.844C>T (STX16) | ||
| NR_037942.1:n.237C>T (STX16) | ||
| NR_037943.1:n.197+7544C>T (STX16) | ||
| NR_037945.1:n.895C>T (STX16-NPEPL1) | ||
| NM_001001433.3:c.141C>T (STX16) MANE Select | NP_001001433.1:p.Asp47= | |
| NM_001134772.3:c.132+7493C>T (STX16) | NP_001128244.1:n.132+7493C>T | |
| NM_001134773.3:c.90C>T (STX16) | NP_001128245.1:p.Asp30= | |
| NM_001204868.2:c.-19C>T (STX16) | NP_001191797.1:n.-19C>T | |
| NM_003763.6:c.81+7544C>T (STX16) | NP_003754.2:n.81+7544C>T | |
| NR_037941.2:n.814C>T (STX16) | ||
| NR_037942.2:n.207C>T (STX16) | ||
| NR_037943.2:n.167+7544C>T (STX16) |