Revel Score:
ENST00000290378 (MANE Select)
0.414
ENST00000544062
0.414
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34792093T>G , CM000677.2:g.34792093T>G | GRCh38 |
| NC_000015.9:g.35084294T>G , CM000677.1:g.35084294T>G | GRCh37 |
| NC_000015.8:g.32871586T>G | NCBI36 |
| NG_007553.1:g.8634A>C , LRG_388:g.8634A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.911A>C (ACTC1) | ||
| ENST00000290378.6:c.805A>C (ACTC1) MANE Select | ENSP00000290378.4:p.Ile269Leu | |
| ENST00000647798.1:n.899A>C (ACTC1) | ||
| ENST00000650163.1:n.885A>C (ACTC1) | ||
| ENST00000290378.4:c.805A>C (ACTC1) | ENSP00000290378.4:p.Ile269Leu | |
| ENST00000557860.1:n.495A>C (ACTC1) | ||
| ENST00000560563.1:n.304A>C (ACTC1) | ||
| NM_005159.4:c.805A>C , LRG_388t1:c.805A>C (ACTC1) | NP_005150.1:p.Ile269Leu | |
| NR_120329.1:n.299+14662T>G (GJD2-DT) | ||
| NM_005159.5:c.805A>C (ACTC1) MANE Select | NP_005150.1:p.Ile269Leu |