Revel Score:
ENST00000342992
0.589
ENST00000460472
0.589
ENST00000342175
0.589
ENST00000359218
0.589
ENST00000356127
0.589
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178586618A>C , CM000664.2:g.178586618A>C | GRCh38 |
| NC_000002.11:g.179451345A>C , CM000664.1:g.179451345A>C | GRCh37 |
| NC_000002.10:g.179159591A>C | NCBI36 |
| NG_011618.3:g.249185T>G , LRG_391:g.249185T>G | |
| NG_051363.1:g.68792A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56579T>G (TTN) | ENSP00000343764.6:p.Val18860Gly | |
| ENST00000342175.11:c.37664T>G (TTN) | ENSP00000340554.6:p.Val12555Gly | |
| ENST00000359218.10:c.37463T>G (TTN) | ENSP00000352154.5:p.Val12488Gly | |
| ENST00000342175.10:c.37664T>G (TTN) | ENSP00000340554.6:p.Val12555Gly | |
| ENST00000342992.10:c.56579T>G (TTN) | ENSP00000343764.6:p.Val18860Gly | |
| ENST00000359218.9:c.37463T>G (TTN) | ENSP00000352154.5:p.Val12488Gly | |
| ENST00000460472.6:c.37088T>G (TTN) | ENSP00000434586.1:p.Val12363Gly | |
| ENST00000589042.5:c.64283T>G (TTN) MANE Select | ENSP00000467141.1:p.Val21428Gly | |
| ENST00000591111.5:c.59360T>G (TTN) | ENSP00000465570.1:p.Val19787Gly | |
| ENST00000615779.4:c.59360T>G (TTN) | ENSP00000483597.1:p.Val19787Gly | |
| NM_001256850.1:c.59360T>G (TTN) | NP_001243779.1:p.Val19787Gly | |
| NM_001267550.2:c.64283T>G (TTN) MANE Select | NP_001254479.2:p.Val21428Gly | |
| NM_003319.4:c.37088T>G (TTN) | NP_003310.4:p.Val12363Gly | |
| NM_133378.4:c.56579T>G (TTN) | NP_596869.4:p.Val18860Gly | |
| NM_133432.3:c.37463T>G (TTN) | NP_597676.3:p.Val12488Gly | |
| NM_133437.4:c.37664T>G (TTN) | NP_597681.4:p.Val12555Gly | |
| NR_038271.1:n.597-10978A>C (TTN-AS1) | ||
| NR_038272.1:n.3188+1625A>C (TTN-AS1) | ||
| XM_011511729.1:c.63380T>G (TTN) | XP_011510031.1:p.Val21127Gly | |
| XM_011511730.1:c.37274T>G (TTN) | XP_011510032.1:p.Val12425Gly | |
| XM_011511731.1:c.37133T>G (TTN) | XP_011510033.1:p.Val12378Gly | |
| XM_017004819.1:c.63176T>G (TTN) | XP_016860308.1:p.Val21059Gly | |
| XM_017004820.1:c.58574T>G (TTN) | XP_016860309.1:p.Val19525Gly | |
| XM_017004821.1:c.58571T>G (TTN) | XP_016860310.1:p.Val19524Gly | |
| XM_017004822.1:c.55613T>G (TTN) | XP_016860311.1:p.Val18538Gly | |
| XM_017004823.1:c.37229T>G (TTN) | XP_016860312.1:p.Val12410Gly | |
| XM_024453094.1:c.58724T>G (TTN) | XP_024308862.1:p.Val19575Gly | |
| XM_024453095.1:c.58721T>G (TTN) | XP_024308863.1:p.Val19574Gly | |
| XM_024453096.1:c.58154T>G (TTN) | XP_024308864.1:p.Val19385Gly | |
| XM_024453097.1:c.55496T>G (TTN) | XP_024308865.1:p.Val18499Gly | |
| XM_024453098.1:c.55415T>G (TTN) | XP_024308866.1:p.Val18472Gly | |
| XM_024453099.1:c.37178T>G (TTN) | XP_024308867.1:p.Val12393Gly | |
| XM_024453100.1:c.27032T>G (TTN) | XP_024308868.1:p.Val9011Gly |