Linked Data
ClinVar Variation Id:
339050
dbSNP Id:
rs2296524
ExAC:
20:57244493 G / A
gnomAD v2:
20-57244493-G-A
gnomAD v3:
20-58669437-G-A
gnomAD v4:
20-58669437-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58669437G>A , CM000682.2:g.58669437G>A | GRCh38 |
| NC_000020.10:g.57244493G>A , CM000682.1:g.57244493G>A | GRCh37 |
| NC_000020.9:g.56677899G>A | NCBI36 |
| NG_011831.2:g.23166G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312283.12:c.381G>A (STX16) | ENSP00000312086.8:p.Gln127= | |
| ENST00000355957.9:c.489G>A (STX16) | ENSP00000348229.5:p.Gln163= | |
| ENST00000358029.8:c.528G>A (STX16) | ENSP00000350723.4:p.Gln176= | |
| ENST00000359617.8:c.381G>A (STX16) | ENSP00000352634.4:p.Gln127= | |
| ENST00000361770.9:c.486G>A (STX16) | ENSP00000355408.6:p.Gln162= | |
| ENST00000361830.7:c.381G>A (STX16) | ENSP00000354445.4:p.Gln127= | |
| ENST00000371132.8:c.477G>A (STX16) | ENSP00000360173.4:p.Gln159= | |
| ENST00000371141.8:c.540G>A (STX16) MANE Select | ENSP00000360183.4:p.Gln180= | |
| ENST00000438253.1:c.366G>A (STX16) | ENSP00000401801.1:p.Gln122= | |
| ENST00000460655.5:c.*105-1075G>A (STX16) | ENSP00000435118.1:n.*105-1075G>A | |
| ENST00000464640.5:c.489G>A (STX16) | ENSP00000432414.1:p.Gln163= | |
| ENST00000467096.5:c.343-1075G>A (STX16) | ENSP00000434369.1:n.343-1075G>A | |
| ENST00000468590.1:n.439G>A (STX16) | ||
| ENST00000476384.5:c.235-1075G>A (STX16) | ENSP00000437209.1:n.235-1075G>A | |
| ENST00000483434.5:c.235-1075G>A (STX16) | ENSP00000432823.1:n.235-1075G>A | |
| ENST00000490700.5:n.135-1075G>A (STX16) | ||
| ENST00000493301.5:c.375-1075G>A (STX16) | ||
| ENST00000496003.5:n.643-1075G>A (STX16) | ||
| ENST00000496117.5:n.371-1075G>A (STX16) | ||
| ENST00000530122.1:c.540G>A (STX16-NPEPL1) | ENSP00000457522.1:p.Gln180= | |
| NM_001001433.2:c.540G>A (STX16) | NP_001001433.1:p.Gln180= | |
| NM_001134772.2:c.528G>A (STX16) | NP_001128244.1:p.Gln176= | |
| NM_001134773.2:c.489G>A (STX16) | NP_001128245.1:p.Gln163= | |
| NM_001204868.1:c.381G>A (STX16) | NP_001191797.1:p.Gln127= | |
| NM_003763.5:c.477G>A (STX16) | NP_003754.2:p.Gln159= | |
| NR_037941.1:n.1097-1075G>A (STX16) | ||
| NR_037942.1:n.490-1075G>A (STX16) | ||
| NR_037943.1:n.447-1075G>A (STX16) | ||
| NR_037945.1:n.1294G>A (STX16-NPEPL1) | ||
| NM_001001433.3:c.540G>A (STX16) MANE Select | NP_001001433.1:p.Gln180= | |
| NM_001134772.3:c.528G>A (STX16) | NP_001128244.1:p.Gln176= | |
| NM_001134773.3:c.489G>A (STX16) | NP_001128245.1:p.Gln163= | |
| NM_001204868.2:c.381G>A (STX16) | NP_001191797.1:p.Gln127= | |
| NM_003763.6:c.477G>A (STX16) | NP_003754.2:p.Gln159= | |
| NR_037941.2:n.1067-1075G>A (STX16) | ||
| NR_037942.2:n.460-1075G>A (STX16) | ||
| NR_037943.2:n.417-1075G>A (STX16) |