Revel Score:
ENST00000277541
0.850
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136497539A>G , CM000671.2:g.136497539A>G | GRCh38 |
| NC_000009.11:g.139391991A>G , CM000671.1:g.139391991A>G | GRCh37 |
| NC_000009.10:g.138511812A>G | NCBI36 |
| NG_007458.1:g.53248T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.6200T>C MANE Select | ENSP00000498587.1:p.Leu2067Pro | |
| ENST00000679595.1:c.*1240T>C | ENSP00000506241.1:n.*1240T>C | |
| ENST00000679969.1:n.2796T>C | ||
| ENST00000680003.1:n.2532T>C | ||
| ENST00000680133.1:c.6086T>C | ENSP00000505319.1:p.Leu2029Pro | |
| ENST00000680218.1:c.6080T>C | ENSP00000505339.1:p.Leu2027Pro | |
| ENST00000680668.1:c.6086T>C | ENSP00000506336.1:p.Leu2029Pro | |
| ENST00000680778.1:c.3797T>C | ENSP00000506033.1:p.Leu1266Pro | |
| ENST00000680924.1:c.*3600T>C | ENSP00000506031.1:n.*3600T>C | |
| ENST00000681135.1:c.*3809T>C | ENSP00000506636.1:n.*3809T>C | |
| ENST00000681298.1:n.4305T>C | ||
| ENST00000681454.1:c.*5436T>C | ENSP00000505763.1:n.*5436T>C | |
| ENST00000277541.6:c.6200T>C | ENSP00000277541.6:p.Leu2067Pro | |
| NM_017617.3:c.6200T>C | NP_060087.3:p.Leu2067Pro | |
| XM_011518717.1:c.5501T>C | XP_011517019.1:p.Leu1834Pro | |
| NM_017617.5:c.6200T>C MANE Select | NP_060087.3:p.Leu2067Pro | |
| XM_011518717.2:c.5477T>C | XP_011517019.2:p.Leu1826Pro |