Revel Score:
ENST00000342992
0.374
ENST00000460472
0.374
ENST00000342175
0.374
ENST00000359218
0.374
ENST00000356127
0.374
gnomAD v3:
gnomAD v4:
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178586618A>G , CM000664.2:g.178586618A>G | GRCh38 |
| NC_000002.11:g.179451345A>G , CM000664.1:g.179451345A>G | GRCh37 |
| NC_000002.10:g.179159591A>G | NCBI36 |
| NG_011618.3:g.249185T>C , LRG_391:g.249185T>C | |
| NG_051363.1:g.68792A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56579T>C (TTN) | ENSP00000343764.6:p.Val18860Ala | |
| ENST00000342175.11:c.37664T>C (TTN) | ENSP00000340554.6:p.Val12555Ala | |
| ENST00000359218.10:c.37463T>C (TTN) | ENSP00000352154.5:p.Val12488Ala | |
| ENST00000342175.10:c.37664T>C (TTN) | ENSP00000340554.6:p.Val12555Ala | |
| ENST00000342992.10:c.56579T>C (TTN) | ENSP00000343764.6:p.Val18860Ala | |
| ENST00000359218.9:c.37463T>C (TTN) | ENSP00000352154.5:p.Val12488Ala | |
| ENST00000460472.6:c.37088T>C (TTN) | ENSP00000434586.1:p.Val12363Ala | |
| ENST00000589042.5:c.64283T>C (TTN) MANE Select | ENSP00000467141.1:p.Val21428Ala | |
| ENST00000591111.5:c.59360T>C (TTN) | ENSP00000465570.1:p.Val19787Ala | |
| ENST00000615779.4:c.59360T>C (TTN) | ENSP00000483597.1:p.Val19787Ala | |
| NM_001256850.1:c.59360T>C (TTN) | NP_001243779.1:p.Val19787Ala | |
| NM_001267550.2:c.64283T>C (TTN) MANE Select | NP_001254479.2:p.Val21428Ala | |
| NM_003319.4:c.37088T>C (TTN) | NP_003310.4:p.Val12363Ala | |
| NM_133378.4:c.56579T>C (TTN) | NP_596869.4:p.Val18860Ala | |
| NM_133432.3:c.37463T>C (TTN) | NP_597676.3:p.Val12488Ala | |
| NM_133437.4:c.37664T>C (TTN) | NP_597681.4:p.Val12555Ala | |
| NR_038271.1:n.597-10978A>G (TTN-AS1) | ||
| NR_038272.1:n.3188+1625A>G (TTN-AS1) | ||
| XM_011511729.1:c.63380T>C (TTN) | XP_011510031.1:p.Val21127Ala | |
| XM_011511730.1:c.37274T>C (TTN) | XP_011510032.1:p.Val12425Ala | |
| XM_011511731.1:c.37133T>C (TTN) | XP_011510033.1:p.Val12378Ala | |
| XM_017004819.1:c.63176T>C (TTN) | XP_016860308.1:p.Val21059Ala | |
| XM_017004820.1:c.58574T>C (TTN) | XP_016860309.1:p.Val19525Ala | |
| XM_017004821.1:c.58571T>C (TTN) | XP_016860310.1:p.Val19524Ala | |
| XM_017004822.1:c.55613T>C (TTN) | XP_016860311.1:p.Val18538Ala | |
| XM_017004823.1:c.37229T>C (TTN) | XP_016860312.1:p.Val12410Ala | |
| XM_024453094.1:c.58724T>C (TTN) | XP_024308862.1:p.Val19575Ala | |
| XM_024453095.1:c.58721T>C (TTN) | XP_024308863.1:p.Val19574Ala | |
| XM_024453096.1:c.58154T>C (TTN) | XP_024308864.1:p.Val19385Ala | |
| XM_024453097.1:c.55496T>C (TTN) | XP_024308865.1:p.Val18499Ala | |
| XM_024453098.1:c.55415T>C (TTN) | XP_024308866.1:p.Val18472Ala | |
| XM_024453099.1:c.37178T>C (TTN) | XP_024308867.1:p.Val12393Ala | |
| XM_024453100.1:c.27032T>C (TTN) | XP_024308868.1:p.Val9011Ala |