Linked Data
ClinVar Variation Id:
1960402
ClinVar RCV Id:
RCV002706463
dbSNP Id:
rs1286210538
gnomAD v2:
22-18609140-T-C
gnomAD v4:
22-18126373-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18126373T>C , CM000684.2:g.18126373T>C | GRCh38 |
| NC_000022.10:g.18609140T>C , CM000684.1:g.18609140T>C | GRCh37 |
| NC_000022.9:g.16989140T>C | NCBI36 |
| NG_023429.1:g.20688T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330423.8:c.395T>C (TUBA8) MANE Select | ENSP00000333326.3:p.Leu132Pro | |
| ENST00000416740.2:c.197T>C (TUBA8) | ENSP00000412646.2:p.Leu66Pro | |
| ENST00000474897.6:c.*285T>C | ENSP00000434235.2:n.*285T>C | |
| ENST00000679481.1:n.764T>C (TUBA8) | ||
| ENST00000679963.1:c.197T>C (TUBA8) | ENSP00000505896.1:p.Leu66Pro | |
| ENST00000680175.1:c.395T>C (TUBA8) | ENSP00000505461.1:p.Leu132Pro | |
| ENST00000316027.10:c.197T>C (TUBA8) | ENSP00000318575.6:p.Leu66Pro | |
| ENST00000330423.7:c.395T>C (TUBA8) | ENSP00000333326.3:p.Leu132Pro | |
| ENST00000416740.1:c.467T>C (TUBA8) | ENSP00000412646.1:p.Leu156Pro | |
| ENST00000474897.5:c.*193T>C (PEX26) | ENSP00000434235.1:n.*193T>C | |
| NM_001193414.1:c.197T>C (TUBA8) | NP_001180343.1:p.Leu66Pro | |
| NM_018943.2:c.395T>C (TUBA8) | NP_061816.1:p.Leu132Pro | |
| NM_018943.3:c.395T>C (TUBA8) MANE Select | NP_061816.1:p.Leu132Pro | |
| NM_001193414.2:c.197T>C (TUBA8) | NP_001180343.1:p.Leu66Pro |