Revel Score:
ENST00000342992
0.255
ENST00000460472
0.255
ENST00000342175
0.255
ENST00000359218
0.255
ENST00000356127
0.255
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.000005 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.0000031 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178586606T>C , CM000664.2:g.178586606T>C | GRCh38 |
| NC_000002.11:g.179451333T>C , CM000664.1:g.179451333T>C | GRCh37 |
| NC_000002.10:g.179159579T>C | NCBI36 |
| NG_011618.3:g.249197A>G , LRG_391:g.249197A>G | |
| NG_051363.1:g.68780T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56591A>G (TTN) | ENSP00000343764.6:p.Lys18864Arg | |
| ENST00000342175.11:c.37676A>G (TTN) | ENSP00000340554.6:p.Lys12559Arg | |
| ENST00000359218.10:c.37475A>G (TTN) | ENSP00000352154.5:p.Lys12492Arg | |
| ENST00000342175.10:c.37676A>G (TTN) | ENSP00000340554.6:p.Lys12559Arg | |
| ENST00000342992.10:c.56591A>G (TTN) | ENSP00000343764.6:p.Lys18864Arg | |
| ENST00000359218.9:c.37475A>G (TTN) | ENSP00000352154.5:p.Lys12492Arg | |
| ENST00000460472.6:c.37100A>G (TTN) | ENSP00000434586.1:p.Lys12367Arg | |
| ENST00000589042.5:c.64295A>G (TTN) MANE Select | ENSP00000467141.1:p.Lys21432Arg | |
| ENST00000591111.5:c.59372A>G (TTN) | ENSP00000465570.1:p.Lys19791Arg | |
| ENST00000615779.4:c.59372A>G (TTN) | ENSP00000483597.1:p.Lys19791Arg | |
| NM_001256850.1:c.59372A>G (TTN) | NP_001243779.1:p.Lys19791Arg | |
| NM_001267550.2:c.64295A>G (TTN) MANE Select | NP_001254479.2:p.Lys21432Arg | |
| NM_003319.4:c.37100A>G (TTN) | NP_003310.4:p.Lys12367Arg | |
| NM_133378.4:c.56591A>G (TTN) | NP_596869.4:p.Lys18864Arg | |
| NM_133432.3:c.37475A>G (TTN) | NP_597676.3:p.Lys12492Arg | |
| NM_133437.4:c.37676A>G (TTN) | NP_597681.4:p.Lys12559Arg | |
| NR_038271.1:n.597-10990T>C (TTN-AS1) | ||
| NR_038272.1:n.3188+1613T>C (TTN-AS1) | ||
| XM_011511729.1:c.63392A>G (TTN) | XP_011510031.1:p.Lys21131Arg | |
| XM_011511730.1:c.37286A>G (TTN) | XP_011510032.1:p.Lys12429Arg | |
| XM_011511731.1:c.37145A>G (TTN) | XP_011510033.1:p.Lys12382Arg | |
| XM_017004819.1:c.63188A>G (TTN) | XP_016860308.1:p.Lys21063Arg | |
| XM_017004820.1:c.58586A>G (TTN) | XP_016860309.1:p.Lys19529Arg | |
| XM_017004821.1:c.58583A>G (TTN) | XP_016860310.1:p.Lys19528Arg | |
| XM_017004822.1:c.55625A>G (TTN) | XP_016860311.1:p.Lys18542Arg | |
| XM_017004823.1:c.37241A>G (TTN) | XP_016860312.1:p.Lys12414Arg | |
| XM_024453094.1:c.58736A>G (TTN) | XP_024308862.1:p.Lys19579Arg | |
| XM_024453095.1:c.58733A>G (TTN) | XP_024308863.1:p.Lys19578Arg | |
| XM_024453096.1:c.58166A>G (TTN) | XP_024308864.1:p.Lys19389Arg | |
| XM_024453097.1:c.55508A>G (TTN) | XP_024308865.1:p.Lys18503Arg | |
| XM_024453098.1:c.55427A>G (TTN) | XP_024308866.1:p.Lys18476Arg | |
| XM_024453099.1:c.37190A>G (TTN) | XP_024308867.1:p.Lys12397Arg | |
| XM_024453100.1:c.27044A>G (TTN) | XP_024308868.1:p.Lys9015Arg |