Linked Data
ClinVar Variation Id:
339033
ClinVar RCV Id:
RCV000334544
dbSNP Id:
rs148071494
gnomAD v2:
20-57226513-G-A
gnomAD v3:
20-58651457-G-A
gnomAD v4:
20-58651457-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58651457G>A , CM000682.2:g.58651457G>A | GRCh38 |
| NC_000020.10:g.57226513G>A , CM000682.1:g.57226513G>A | GRCh37 |
| NC_000020.9:g.56659919G>A | NCBI36 |
| NG_011831.2:g.5186G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312283.12:c.-31+43G>A (STX16) | ENSP00000312086.8:n.-31+43G>A | |
| ENST00000355957.9:c.-550G>A (STX16) | ENSP00000348229.5:n.-550G>A | |
| ENST00000359617.8:c.-94+23G>A (STX16) | ENSP00000352634.4:n.-94+23G>A | |
| ENST00000361830.7:c.-85+23G>A (STX16) | ENSP00000354445.4:n.-85+23G>A | |
| ENST00000371141.8:c.-550G>A (STX16) MANE Select | ENSP00000360183.4:n.-550G>A | |
| ENST00000412911.5:c.-43+23G>A (STX16) | ENSP00000416852.1:n.-43+23G>A | |
| ENST00000458280.5:c.-43+43G>A (STX16) | ENSP00000388348.1:n.-43+43G>A | |
| ENST00000460655.5:c.-117G>A (STX16) | ENSP00000435118.1:n.-117G>A | |
| ENST00000476384.5:c.-149+23G>A (STX16) | ENSP00000437209.1:n.-149+23G>A | |
| ENST00000483434.5:c.-31+23G>A (STX16) | ENSP00000432823.1:n.-31+23G>A | |
| ENST00000490700.5:n.119+23G>A (STX16) | ||
| ENST00000496117.5:n.94+51G>A (STX16) | ||
| ENST00000530122.1:c.-550G>A (STX16-NPEPL1) | ENSP00000457522.1:n.-550G>A | |
| NM_001001433.2:c.-550G>A (STX16) | NP_001001433.1:n.-550G>A | |
| NM_001134772.2:c.-550G>A (STX16) | NP_001128244.1:n.-550G>A | |
| NM_001134773.2:c.-550G>A (STX16) | NP_001128245.1:n.-550G>A | |
| NM_001204868.1:c.-94+23G>A (STX16) | NP_001191797.1:n.-94+23G>A | |
| NM_003763.5:c.-550G>A (STX16) | NP_003754.2:n.-550G>A | |
| NR_037941.1:n.205G>A (STX16) | ||
| NR_037942.1:n.162+43G>A (STX16) | ||
| NR_037943.1:n.182+23G>A (STX16) | ||
| NR_037945.1:n.205G>A (STX16-NPEPL1) | ||
| NM_001001433.3:c.-550G>A (STX16) MANE Select | NP_001001433.1:n.-550G>A | |
| NM_001134772.3:c.-550G>A (STX16) | NP_001128244.1:n.-550G>A | |
| NM_001134773.3:c.-550G>A (STX16) | NP_001128245.1:n.-550G>A | |
| NM_001204868.2:c.-94+23G>A (STX16) | NP_001191797.1:n.-94+23G>A | |
| NM_003763.6:c.-550G>A (STX16) | NP_003754.2:n.-550G>A | |
| NR_037941.2:n.175G>A (STX16) | ||
| NR_037942.2:n.132+43G>A (STX16) | ||
| NR_037943.2:n.152+23G>A (STX16) |