Linked Data
ClinVar Variation Id:
2795899
ClinVar RCV Id:
RCV003667866
dbSNP Id:
rs921226473
gnomAD v2:
22-18609310-C-T
gnomAD v4:
22-18126543-C-T
COSMIC:
COSM4848987
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18126543C>T , CM000684.2:g.18126543C>T | GRCh38 |
| NC_000022.10:g.18609310C>T , CM000684.1:g.18609310C>T | GRCh37 |
| NC_000022.9:g.16989310C>T | NCBI36 |
| NG_023429.1:g.20858C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330423.8:c.565C>T (TUBA8) MANE Select | ENSP00000333326.3:p.Leu189= | |
| ENST00000416740.2:c.367C>T (TUBA8) | ENSP00000412646.2:p.Leu123= | |
| ENST00000474897.6:c.*455C>T | ENSP00000434235.2:n.*455C>T | |
| ENST00000679481.1:n.934C>T (TUBA8) | ||
| ENST00000679963.1:c.367C>T (TUBA8) | ENSP00000505896.1:p.Leu123= | |
| ENST00000680175.1:c.565C>T (TUBA8) | ENSP00000505461.1:p.Leu189= | |
| ENST00000316027.10:c.367C>T (TUBA8) | ENSP00000318575.6:p.Leu123= | |
| ENST00000330423.7:c.565C>T (TUBA8) | ENSP00000333326.3:p.Leu189= | |
| ENST00000416740.1:c.637C>T (TUBA8) | ENSP00000412646.1:p.Leu213= | |
| ENST00000474897.5:c.*363C>T (PEX26) | ENSP00000434235.1:n.*363C>T | |
| NM_001193414.1:c.367C>T (TUBA8) | NP_001180343.1:p.Leu123= | |
| NM_018943.2:c.565C>T (TUBA8) | NP_061816.1:p.Leu189= | |
| NM_018943.3:c.565C>T (TUBA8) MANE Select | NP_061816.1:p.Leu189= | |
| NM_001193414.2:c.367C>T (TUBA8) | NP_001180343.1:p.Leu123= |