Revel Score:
ENST00000277541
0.705
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136497486C>G , CM000671.2:g.136497486C>G | GRCh38 |
| NC_000009.11:g.139391938C>G , CM000671.1:g.139391938C>G | GRCh37 |
| NC_000009.10:g.138511759C>G | NCBI36 |
| NG_007458.1:g.53301G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.6253G>C MANE Select | ENSP00000498587.1:p.Ala2085Pro | |
| ENST00000679595.1:c.*1293G>C | ENSP00000506241.1:n.*1293G>C | |
| ENST00000679969.1:n.2849G>C | ||
| ENST00000680003.1:n.2585G>C | ||
| ENST00000680133.1:c.6139G>C | ENSP00000505319.1:p.Ala2047Pro | |
| ENST00000680218.1:c.6133G>C | ENSP00000505339.1:p.Ala2045Pro | |
| ENST00000680668.1:c.6139G>C | ENSP00000506336.1:p.Ala2047Pro | |
| ENST00000680778.1:c.3850G>C | ENSP00000506033.1:p.Ala1284Pro | |
| ENST00000680924.1:c.*3653G>C | ENSP00000506031.1:n.*3653G>C | |
| ENST00000681135.1:c.*3862G>C | ENSP00000506636.1:n.*3862G>C | |
| ENST00000681298.1:n.4358G>C | ||
| ENST00000681454.1:c.*5489G>C | ENSP00000505763.1:n.*5489G>C | |
| ENST00000277541.6:c.6253G>C | ENSP00000277541.6:p.Ala2085Pro | |
| NM_017617.3:c.6253G>C | NP_060087.3:p.Ala2085Pro | |
| XM_011518717.1:c.5554G>C | XP_011517019.1:p.Ala1852Pro | |
| NM_017617.5:c.6253G>C MANE Select | NP_060087.3:p.Ala2085Pro | |
| XM_011518717.2:c.5530G>C | XP_011517019.2:p.Ala1844Pro |