Linked Data
ClinVar Variation Id:
339038
ClinVar RCV Id:
RCV000309301
dbSNP Id:
rs886056845
gnomAD v3:
20-58651630-G-A
gnomAD v4:
20-58651630-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58651630G>A , CM000682.2:g.58651630G>A | GRCh38 |
| NC_000020.10:g.57226686G>A , CM000682.1:g.57226686G>A | GRCh37 |
| NC_000020.9:g.56660092G>A | NCBI36 |
| NG_011831.2:g.5359G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312283.12:c.-31+216G>A (STX16) | ENSP00000312086.8:n.-31+216G>A | |
| ENST00000355957.9:c.-377G>A (STX16) | ENSP00000348229.5:n.-377G>A | |
| ENST00000359617.8:c.-94+196G>A (STX16) | ENSP00000352634.4:n.-94+196G>A | |
| ENST00000361830.7:c.-85+196G>A (STX16) | ENSP00000354445.4:n.-85+196G>A | |
| ENST00000371132.8:c.-377G>A (STX16) | ENSP00000360173.4:n.-377G>A | |
| ENST00000371141.8:c.-377G>A (STX16) MANE Select | ENSP00000360183.4:n.-377G>A | |
| ENST00000412911.5:c.-43+196G>A (STX16) | ENSP00000416852.1:n.-43+196G>A | |
| ENST00000458280.5:c.-43+216G>A (STX16) | ENSP00000388348.1:n.-43+216G>A | |
| ENST00000460655.5:c.-43+99G>A (STX16) | ENSP00000435118.1:n.-43+99G>A | |
| ENST00000476384.5:c.-149+196G>A (STX16) | ENSP00000437209.1:n.-149+196G>A | |
| ENST00000483434.5:c.-31+196G>A (STX16) | ENSP00000432823.1:n.-31+196G>A | |
| ENST00000490700.5:n.119+196G>A (STX16) | ||
| ENST00000496117.5:n.94+224G>A (STX16) | ||
| ENST00000530122.1:c.-377G>A (STX16-NPEPL1) | ENSP00000457522.1:n.-377G>A | |
| NM_001001433.2:c.-377G>A (STX16) | NP_001001433.1:n.-377G>A | |
| NM_001134772.2:c.-377G>A (STX16) | NP_001128244.1:n.-377G>A | |
| NM_001134773.2:c.-377G>A (STX16) | NP_001128245.1:n.-377G>A | |
| NM_001204868.1:c.-94+196G>A (STX16) | NP_001191797.1:n.-94+196G>A | |
| NM_003763.5:c.-377G>A (STX16) | NP_003754.2:n.-377G>A | |
| NR_037941.1:n.378G>A (STX16) | ||
| NR_037942.1:n.162+216G>A (STX16) | ||
| NR_037943.1:n.182+196G>A (STX16) | ||
| NR_037945.1:n.378G>A (STX16-NPEPL1) | ||
| NM_001001433.3:c.-377G>A (STX16) MANE Select | NP_001001433.1:n.-377G>A | |
| NM_001134772.3:c.-377G>A (STX16) | NP_001128244.1:n.-377G>A | |
| NM_001134773.3:c.-377G>A (STX16) | NP_001128245.1:n.-377G>A | |
| NM_001204868.2:c.-94+196G>A (STX16) | NP_001191797.1:n.-94+196G>A | |
| NM_003763.6:c.-377G>A (STX16) | NP_003754.2:n.-377G>A | |
| NR_037941.2:n.348G>A (STX16) | ||
| NR_037942.2:n.132+216G>A (STX16) | ||
| NR_037943.2:n.152+196G>A (STX16) |