Linked Data
ClinVar Variation Id:
339047
ClinVar RCV Id:
RCV000319973
dbSNP Id:
rs533111939
ExAC:
20:57244340 C / T
gnomAD v2:
20-57244340-C-T
gnomAD v3:
20-58669284-C-T
gnomAD v4:
20-58669284-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58669284C>T , CM000682.2:g.58669284C>T | GRCh38 |
| NC_000020.10:g.57244340C>T , CM000682.1:g.57244340C>T | GRCh37 |
| NC_000020.9:g.56677746C>T | NCBI36 |
| NG_011831.2:g.23013C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312283.12:c.235-7C>T (STX16) | ENSP00000312086.8:n.235-7C>T | |
| ENST00000355957.9:c.343-7C>T (STX16) | ENSP00000348229.5:n.343-7C>T | |
| ENST00000358029.8:c.382-7C>T (STX16) | ENSP00000350723.4:n.382-7C>T | |
| ENST00000359617.8:c.235-7C>T (STX16) | ENSP00000352634.4:n.235-7C>T | |
| ENST00000361770.9:c.343-7C>T (STX16) | ENSP00000355408.6:n.343-7C>T | |
| ENST00000361830.7:c.235-7C>T (STX16) | ENSP00000354445.4:n.235-7C>T | |
| ENST00000371132.8:c.331-7C>T (STX16) | ENSP00000360173.4:n.331-7C>T | |
| ENST00000371141.8:c.394-7C>T (STX16) MANE Select | ENSP00000360183.4:n.394-7C>T | |
| ENST00000412911.5:c.235-7C>T (STX16) | ENSP00000416852.1:n.235-7C>T | |
| ENST00000438253.1:c.220-7C>T (STX16) | ENSP00000401801.1:n.220-7C>T | |
| ENST00000458280.5:c.235-7C>T (STX16) | ENSP00000388348.1:n.235-7C>T | |
| ENST00000460655.5:c.*104+1157C>T (STX16) | ENSP00000435118.1:n.*104+1157C>T | |
| ENST00000464640.5:c.343-7C>T (STX16) | ENSP00000432414.1:n.343-7C>T | |
| ENST00000467096.5:c.342+1157C>T (STX16) | ENSP00000434369.1:n.342+1157C>T | |
| ENST00000468590.1:n.304-18C>T (STX16) | ||
| ENST00000476384.5:c.234+1157C>T (STX16) | ENSP00000437209.1:n.234+1157C>T | |
| ENST00000483434.5:c.234+1157C>T (STX16) | ENSP00000432823.1:n.234+1157C>T | |
| ENST00000490700.5:n.135-1228C>T (STX16) | ||
| ENST00000493301.5:c.374+1157C>T (STX16) | ||
| ENST00000496003.5:n.642+1157C>T (STX16) | ||
| ENST00000496117.5:n.370+1157C>T (STX16) | ||
| ENST00000530122.1:c.394-7C>T (STX16-NPEPL1) | ENSP00000457522.1:n.394-7C>T | |
| NM_001001433.2:c.394-7C>T (STX16) | NP_001001433.1:n.394-7C>T | |
| NM_001134772.2:c.382-7C>T (STX16) | NP_001128244.1:n.382-7C>T | |
| NM_001134773.2:c.343-7C>T (STX16) | NP_001128245.1:n.343-7C>T | |
| NM_001204868.1:c.235-7C>T (STX16) | NP_001191797.1:n.235-7C>T | |
| NM_003763.5:c.331-7C>T (STX16) | NP_003754.2:n.331-7C>T | |
| NR_037941.1:n.1096+1157C>T (STX16) | ||
| NR_037942.1:n.489+1157C>T (STX16) | ||
| NR_037943.1:n.446+1157C>T (STX16) | ||
| NR_037945.1:n.1148-7C>T (STX16-NPEPL1) | ||
| NM_001001433.3:c.394-7C>T (STX16) MANE Select | NP_001001433.1:n.394-7C>T | |
| NM_001134772.3:c.382-7C>T (STX16) | NP_001128244.1:n.382-7C>T | |
| NM_001134773.3:c.343-7C>T (STX16) | NP_001128245.1:n.343-7C>T | |
| NM_001204868.2:c.235-7C>T (STX16) | NP_001191797.1:n.235-7C>T | |
| NM_003763.6:c.331-7C>T (STX16) | NP_003754.2:n.331-7C>T | |
| NR_037941.2:n.1066+1157C>T (STX16) | ||
| NR_037942.2:n.459+1157C>T (STX16) | ||
| NR_037943.2:n.416+1157C>T (STX16) |