ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000300036 (MANE Select)
0.856
ENST00000338282
0.856
ENST00000396320
0.856
ENST00000396324
0.856
ENST00000452625 (MANE Plus Clinical)
0.856
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.15726936A>G , CM000678.2:g.15726936A>G | GRCh38 |
| NC_000016.9:g.15820793A>G , CM000678.1:g.15820793A>G | GRCh37 |
| NC_000016.8:g.15728294A>G | NCBI36 |
| NG_009299.1:g.135095T>C | |
| NG_021210.1:g.88670A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300036.6:c.3770T>C (MYH11) MANE Select | ENSP00000300036.5:p.Leu1257Pro | |
| ENST00000452625.7:c.3791T>C (MYH11) MANE Plus Clinical | ENSP00000407821.2:p.Leu1264Pro | |
| ENST00000576790.7:c.3770T>C (MYH11) | ENSP00000458731.1:p.Leu1257Pro | |
| ENST00000652121.1:c.*1953T>C (MYH11) | ENSP00000498314.1:n.*1953T>C | |
| ENST00000674538.1:c.*1304A>G (NDE1) | ENSP00000501547.1:n.*1304A>G | |
| ENST00000674554.1:c.*868+1817A>G (NDE1) | ENSP00000502635.1:n.*868+1817A>G | |
| ENST00000674588.1:c.*2503A>G (NDE1) | ENSP00000502802.1:n.*2503A>G | |
| ENST00000674888.1:c.*868+1817A>G (NDE1) | ENSP00000501936.1:n.*868+1817A>G | |
| ENST00000674900.1:c.*1277+1817A>G (NDE1) | ENSP00000502662.1:n.*1277+1817A>G | |
| ENST00000674995.1:c.*2503A>G (NDE1) | ENSP00000502414.1:n.*2503A>G | |
| ENST00000675171.1:c.*1628+1817A>G (NDE1) | ENSP00000501812.1:n.*1628+1817A>G | |
| ENST00000675926.1:c.*868+1817A>G (NDE1) | ENSP00000502354.1:n.*868+1817A>G | |
| ENST00000675951.1:c.*2685A>G (NDE1) | ENSP00000502160.1:n.*2685A>G | |
| ENST00000300036.5:c.3770T>C (MYH11) | ENSP00000300036.5:p.Leu1257Pro | |
| ENST00000396324.7:c.3791T>C (MYH11) | ENSP00000379616.3:p.Leu1264Pro | |
| ENST00000452625.6:c.3791T>C (MYH11) | ENSP00000407821.2:p.Leu1264Pro | |
| ENST00000576790.6:c.3770T>C (MYH11) | ENSP00000458731.1:p.Leu1257Pro | |
| ENST00000616439.4:c.3791T>C (MYH11) | ENSP00000484924.1:p.Leu1264Pro | |
| NM_001040113.1:c.3791T>C (MYH11) | NP_001035202.1:p.Leu1264Pro | |
| NM_001040114.1:c.3791T>C (MYH11) | NP_001035203.1:p.Leu1264Pro | |
| NM_002474.2:c.3770T>C (MYH11) | NP_002465.1:p.Leu1257Pro | |
| NM_022844.2:c.3770T>C (MYH11) | NP_074035.1:p.Leu1257Pro | |
| XM_011522502.1:c.3770T>C (MYH11) | XP_011520804.1:p.Leu1257Pro | |
| XM_011522502.2:c.3770T>C (MYH11) | XP_011520804.1:p.Leu1257Pro | |
| XM_017023250.1:c.3791T>C (MYH11) | XP_016878739.1:p.Leu1264Pro | |
| NM_002474.3:c.3770T>C (MYH11) MANE Select | NP_002465.1:p.Leu1257Pro | |
| NM_001040113.2:c.3791T>C (MYH11) MANE Plus Clinical | NP_001035202.1:p.Leu1264Pro | |
| NM_001040114.2:c.3791T>C (MYH11) | NP_001035203.1:p.Leu1264Pro | |
| NM_022844.3:c.3770T>C (MYH11) | NP_074035.1:p.Leu1257Pro |