Revel Score:
ENST00000300036 (MANE Select)
0.512
ENST00000338282
0.512
ENST00000396320
0.512
ENST00000396324
0.512
ENST00000452625 (MANE Plus Clinical)
0.512
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002979 (EAS)
Exomes Max Group AF
0.00003348 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.15726882C>T , CM000678.2:g.15726882C>T | GRCh38 |
| NC_000016.9:g.15820739C>T , CM000678.1:g.15820739C>T | GRCh37 |
| NC_000016.8:g.15728240C>T | NCBI36 |
| NG_009299.1:g.135149G>A | |
| NG_021210.1:g.88616C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300036.6:c.3824G>A (MYH11) MANE Select | ENSP00000300036.5:p.Arg1275Gln | |
| ENST00000452625.7:c.3845G>A (MYH11) MANE Plus Clinical | ENSP00000407821.2:p.Arg1282Gln | |
| ENST00000576790.7:c.3824G>A (MYH11) | ENSP00000458731.1:p.Arg1275Gln | |
| ENST00000652121.1:c.*2007G>A (MYH11) | ENSP00000498314.1:n.*2007G>A | |
| ENST00000674538.1:c.*1250C>T (NDE1) | ENSP00000501547.1:n.*1250C>T | |
| ENST00000674554.1:c.*868+1763C>T (NDE1) | ENSP00000502635.1:n.*868+1763C>T | |
| ENST00000674588.1:c.*2449C>T (NDE1) | ENSP00000502802.1:n.*2449C>T | |
| ENST00000674888.1:c.*868+1763C>T (NDE1) | ENSP00000501936.1:n.*868+1763C>T | |
| ENST00000674900.1:c.*1277+1763C>T (NDE1) | ENSP00000502662.1:n.*1277+1763C>T | |
| ENST00000674995.1:c.*2449C>T (NDE1) | ENSP00000502414.1:n.*2449C>T | |
| ENST00000675171.1:c.*1628+1763C>T (NDE1) | ENSP00000501812.1:n.*1628+1763C>T | |
| ENST00000675926.1:c.*868+1763C>T (NDE1) | ENSP00000502354.1:n.*868+1763C>T | |
| ENST00000675951.1:c.*2631C>T (NDE1) | ENSP00000502160.1:n.*2631C>T | |
| ENST00000300036.5:c.3824G>A (MYH11) | ENSP00000300036.5:p.Arg1275Gln | |
| ENST00000396324.7:c.3845G>A (MYH11) | ENSP00000379616.3:p.Arg1282Gln | |
| ENST00000452625.6:c.3845G>A (MYH11) | ENSP00000407821.2:p.Arg1282Gln | |
| ENST00000576790.6:c.3824G>A (MYH11) | ENSP00000458731.1:p.Arg1275Gln | |
| ENST00000616439.4:c.3845G>A (MYH11) | ENSP00000484924.1:p.Arg1282Gln | |
| NM_001040113.1:c.3845G>A (MYH11) | NP_001035202.1:p.Arg1282Gln | |
| NM_001040114.1:c.3845G>A (MYH11) | NP_001035203.1:p.Arg1282Gln | |
| NM_002474.2:c.3824G>A (MYH11) | NP_002465.1:p.Arg1275Gln | |
| NM_022844.2:c.3824G>A (MYH11) | NP_074035.1:p.Arg1275Gln | |
| XM_011522502.1:c.3824G>A (MYH11) | XP_011520804.1:p.Arg1275Gln | |
| XM_011522502.2:c.3824G>A (MYH11) | XP_011520804.1:p.Arg1275Gln | |
| XM_017023250.1:c.3845G>A (MYH11) | XP_016878739.1:p.Arg1282Gln | |
| NM_002474.3:c.3824G>A (MYH11) MANE Select | NP_002465.1:p.Arg1275Gln | |
| NM_001040113.2:c.3845G>A (MYH11) MANE Plus Clinical | NP_001035202.1:p.Arg1282Gln | |
| NM_001040114.2:c.3845G>A (MYH11) | NP_001035203.1:p.Arg1282Gln | |
| NM_022844.3:c.3824G>A (MYH11) | NP_074035.1:p.Arg1275Gln |