Revel Score:
ENST00000278836 (MANE Select)
0.276
ENST00000265460
0.276
ENST00000389602
0.276
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61783882A>C , CM000673.2:g.61783882A>C | GRCh38 |
| NC_000011.9:g.61551354A>C , CM000673.1:g.61551354A>C | GRCh37 |
| NC_000011.8:g.61307930A>C | NCBI36 |
| NG_047038.1:g.36246A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278836.10:c.3151A>C (MYRF) MANE Select | ENSP00000278836.4:p.Ser1051Arg | |
| ENST00000675319.1:c.2516A>C (MYRF) | ||
| ENST00000675345.1:c.901A>C (MYRF) | ENSP00000502028.1:p.Ser301Arg | |
| ENST00000675792.1:c.137A>C (MYRF) | ||
| ENST00000265460.9:c.3031A>C (MYRF) | ENSP00000265460.5:p.Ser1011Arg | |
| ENST00000278836.9:c.3151A>C (MYRF) | ENSP00000278836.4:p.Ser1051Arg | |
| ENST00000389602.4:c.1309A>C (MYRF) | ENSP00000374253.4:p.Ser437Arg | |
| ENST00000535042.1:n.249-4799T>G (TMEM258) | ||
| ENST00000539361.1:n.1696A>C (MYRF) | ||
| NM_001127392.2:c.3151A>C (MYRF) | NP_001120864.1:p.Ser1051Arg | |
| NM_013279.3:c.3031A>C (MYRF) | NP_037411.1:p.Ser1011Arg | |
| XM_005274222.1:c.3154A>C (MYRF) | XP_005274279.1:p.Ser1052Arg | |
| XM_005274223.1:c.3139A>C (MYRF) | XP_005274280.1:p.Ser1047Arg | |
| XM_005274224.1:c.3136A>C (MYRF) | XP_005274281.1:p.Ser1046Arg | |
| XM_005274225.1:c.3073A>C (MYRF) | XP_005274282.1:p.Ser1025Arg | |
| XM_005274226.1:c.3070A>C (MYRF) | XP_005274283.1:p.Ser1024Arg | |
| XM_005274227.1:c.3058A>C (MYRF) | XP_005274284.1:p.Ser1020Arg | |
| XM_005274228.1:c.3001A>C (MYRF) | XP_005274285.1:p.Ser1001Arg | |
| XM_011545234.1:c.2551A>C (MYRF) | XP_011543536.1:p.Ser851Arg | |
| XM_011545234.2:c.2551A>C (MYRF) | XP_011543536.1:p.Ser851Arg | |
| XM_024448677.1:c.2713A>C (MYRF) | XP_024304445.1:p.Ser905Arg | |
| NM_001127392.3:c.3151A>C (MYRF) MANE Select | NP_001120864.1:p.Ser1051Arg | |
| NM_013279.4:c.3031A>C (MYRF) | NP_037411.1:p.Ser1011Arg |