Linked Data
ClinVar Variation Id:
339042
ClinVar RCV Id:
RCV000360413
dbSNP Id:
rs181473720
gnomAD v2:
20-57227000-T-C
gnomAD v3:
20-58651944-T-C
gnomAD v4:
20-58651944-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58651944T>C , CM000682.2:g.58651944T>C | GRCh38 |
| NC_000020.10:g.57227000T>C , CM000682.1:g.57227000T>C | GRCh37 |
| NC_000020.9:g.56660406T>C | NCBI36 |
| NG_011831.2:g.5673T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312283.12:c.-30-129T>C (STX16) | ENSP00000312086.8:n.-30-129T>C | |
| ENST00000355957.9:c.-63T>C (STX16) | ENSP00000348229.5:n.-63T>C | |
| ENST00000358029.8:c.-63T>C (STX16) | ENSP00000350723.4:n.-63T>C | |
| ENST00000359617.8:c.-93-129T>C (STX16) | ENSP00000352634.4:n.-93-129T>C | |
| ENST00000361830.7:c.-84-129T>C (STX16) | ENSP00000354445.4:n.-84-129T>C | |
| ENST00000371132.8:c.-63T>C (STX16) | ENSP00000360173.4:n.-63T>C | |
| ENST00000371141.8:c.-63T>C (STX16) MANE Select | ENSP00000360183.4:n.-63T>C | |
| ENST00000412911.5:c.-42-129T>C (STX16) | ENSP00000416852.1:n.-42-129T>C | |
| ENST00000458280.5:c.-42-129T>C (STX16) | ENSP00000388348.1:n.-42-129T>C | |
| ENST00000460655.5:c.-42-129T>C (STX16) | ENSP00000435118.1:n.-42-129T>C | |
| ENST00000467096.5:c.-63T>C (STX16) | ENSP00000434369.1:n.-63T>C | |
| ENST00000476384.5:c.-148-129T>C (STX16) | ENSP00000437209.1:n.-148-129T>C | |
| ENST00000483434.5:c.-30-129T>C (STX16) | ENSP00000432823.1:n.-30-129T>C | |
| ENST00000490700.5:n.120-129T>C (STX16) | ||
| ENST00000496003.5:n.199T>C (STX16) | ||
| ENST00000496117.5:n.95-129T>C (STX16) | ||
| ENST00000530122.1:c.-63T>C (STX16-NPEPL1) | ENSP00000457522.1:n.-63T>C | |
| NM_001001433.2:c.-63T>C (STX16) | NP_001001433.1:n.-63T>C | |
| NM_001134772.2:c.-63T>C (STX16) | NP_001128244.1:n.-63T>C | |
| NM_001134773.2:c.-63T>C (STX16) | NP_001128245.1:n.-63T>C | |
| NM_001204868.1:c.-93-129T>C (STX16) | NP_001191797.1:n.-93-129T>C | |
| NM_003763.5:c.-63T>C (STX16) | NP_003754.2:n.-63T>C | |
| NR_037941.1:n.692T>C (STX16) | ||
| NR_037942.1:n.163-129T>C (STX16) | ||
| NR_037943.1:n.183-129T>C (STX16) | ||
| NR_037945.1:n.692T>C (STX16-NPEPL1) | ||
| NM_001001433.3:c.-63T>C (STX16) MANE Select | NP_001001433.1:n.-63T>C | |
| NM_001134772.3:c.-63T>C (STX16) | NP_001128244.1:n.-63T>C | |
| NM_001134773.3:c.-63T>C (STX16) | NP_001128245.1:n.-63T>C | |
| NM_001204868.2:c.-93-129T>C (STX16) | NP_001191797.1:n.-93-129T>C | |
| NM_003763.6:c.-63T>C (STX16) | NP_003754.2:n.-63T>C | |
| NR_037941.2:n.662T>C (STX16) | ||
| NR_037942.2:n.133-129T>C (STX16) | ||
| NR_037943.2:n.153-129T>C (STX16) |