Linked Data
ClinVar Variation Id:
339051
dbSNP Id:
rs41276952
ExAC:
20:57245561 G / C
gnomAD v2:
20-57245561-G-C
gnomAD v3:
20-58670505-G-C
gnomAD v4:
20-58670505-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58670505G>C , CM000682.2:g.58670505G>C | GRCh38 |
| NC_000020.10:g.57245561G>C , CM000682.1:g.57245561G>C | GRCh37 |
| NC_000020.9:g.56678967G>C | NCBI36 |
| NG_011831.2:g.24234G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312283.12:c.398-7G>C (STX16) | ENSP00000312086.8:n.398-7G>C | |
| ENST00000355957.9:c.506-7G>C (STX16) | ENSP00000348229.5:n.506-7G>C | |
| ENST00000358029.8:c.545-7G>C (STX16) | ENSP00000350723.4:n.545-7G>C | |
| ENST00000359617.8:c.398-7G>C (STX16) | ENSP00000352634.4:n.398-7G>C | |
| ENST00000361770.9:c.503-7G>C (STX16) | ENSP00000355408.6:n.503-7G>C | |
| ENST00000361830.7:c.398-7G>C (STX16) | ENSP00000354445.4:n.398-7G>C | |
| ENST00000371132.8:c.494-7G>C (STX16) | ENSP00000360173.4:n.494-7G>C | |
| ENST00000371141.8:c.557-7G>C (STX16) MANE Select | ENSP00000360183.4:n.557-7G>C | |
| ENST00000438253.1:c.383-7G>C (STX16) | ENSP00000401801.1:n.383-7G>C | |
| ENST00000460655.5:c.*105-7G>C (STX16) | ENSP00000435118.1:n.*105-7G>C | |
| ENST00000464640.5:c.506-7G>C (STX16) | ENSP00000432414.1:n.506-7G>C | |
| ENST00000467096.5:c.343-7G>C (STX16) | ENSP00000434369.1:n.343-7G>C | |
| ENST00000468590.1:n.456-7G>C (STX16) | ||
| ENST00000476384.5:c.235-7G>C (STX16) | ENSP00000437209.1:n.235-7G>C | |
| ENST00000483434.5:c.235-7G>C (STX16) | ENSP00000432823.1:n.235-7G>C | |
| ENST00000490700.5:n.135-7G>C (STX16) | ||
| ENST00000493301.5:c.375-7G>C (STX16) | ||
| ENST00000496003.5:n.643-7G>C (STX16) | ||
| ENST00000496117.5:n.371-7G>C (STX16) | ||
| ENST00000530122.1:c.557-7G>C (STX16-NPEPL1) | ENSP00000457522.1:n.557-7G>C | |
| NM_001001433.2:c.557-7G>C (STX16) | NP_001001433.1:n.557-7G>C | |
| NM_001134772.2:c.545-7G>C (STX16) | NP_001128244.1:n.545-7G>C | |
| NM_001134773.2:c.506-7G>C (STX16) | NP_001128245.1:n.506-7G>C | |
| NM_001204868.1:c.398-7G>C (STX16) | NP_001191797.1:n.398-7G>C | |
| NM_003763.5:c.494-7G>C (STX16) | NP_003754.2:n.494-7G>C | |
| NR_037941.1:n.1097-7G>C (STX16) | ||
| NR_037942.1:n.490-7G>C (STX16) | ||
| NR_037943.1:n.447-7G>C (STX16) | ||
| NR_037945.1:n.1311-7G>C (STX16-NPEPL1) | ||
| NM_001001433.3:c.557-7G>C (STX16) MANE Select | NP_001001433.1:n.557-7G>C | |
| NM_001134772.3:c.545-7G>C (STX16) | NP_001128244.1:n.545-7G>C | |
| NM_001134773.3:c.506-7G>C (STX16) | NP_001128245.1:n.506-7G>C | |
| NM_001204868.2:c.398-7G>C (STX16) | NP_001191797.1:n.398-7G>C | |
| NM_003763.6:c.494-7G>C (STX16) | NP_003754.2:n.494-7G>C | |
| NR_037941.2:n.1067-7G>C (STX16) | ||
| NR_037942.2:n.460-7G>C (STX16) | ||
| NR_037943.2:n.417-7G>C (STX16) |