Revel Score:
ENST00000342992
0.743
ENST00000460472
0.743
ENST00000342175
0.743
ENST00000359218
0.743
ENST00000356127
0.743
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614651G>C , CM000664.2:g.178614651G>C | GRCh38 |
| NC_000002.11:g.179479378G>C , CM000664.1:g.179479378G>C | GRCh37 |
| NC_000002.10:g.179187623G>C | NCBI36 |
| NG_011618.3:g.221152C>G , LRG_391:g.221152C>G | |
| NG_051363.1:g.96825G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41159C>G (TTN) | ENSP00000343764.6:p.Pro13720Arg | |
| ENST00000342175.11:c.22244C>G (TTN) | ENSP00000340554.6:p.Pro7415Arg | |
| ENST00000359218.10:c.22043C>G (TTN) | ENSP00000352154.5:p.Pro7348Arg | |
| ENST00000342175.10:c.22244C>G (TTN) | ENSP00000340554.6:p.Pro7415Arg | |
| ENST00000342992.10:c.41159C>G (TTN) | ENSP00000343764.6:p.Pro13720Arg | |
| ENST00000359218.9:c.22043C>G (TTN) | ENSP00000352154.5:p.Pro7348Arg | |
| ENST00000460472.6:c.21668C>G (TTN) | ENSP00000434586.1:p.Pro7223Arg | |
| ENST00000589042.5:c.48863C>G (TTN) MANE Select | ENSP00000467141.1:p.Pro16288Arg | |
| ENST00000591111.5:c.43940C>G (TTN) | ENSP00000465570.1:p.Pro14647Arg | |
| ENST00000615779.4:c.43940C>G (TTN) | ENSP00000483597.1:p.Pro14647Arg | |
| NM_001256850.1:c.43940C>G (TTN) | NP_001243779.1:p.Pro14647Arg | |
| NM_001267550.2:c.48863C>G (TTN) MANE Select | NP_001254479.2:p.Pro16288Arg | |
| NM_003319.4:c.21668C>G (TTN) | NP_003310.4:p.Pro7223Arg | |
| NM_133378.4:c.41159C>G (TTN) | NP_596869.4:p.Pro13720Arg | |
| NM_133432.3:c.22043C>G (TTN) | NP_597676.3:p.Pro7348Arg | |
| NM_133437.4:c.22244C>G (TTN) | NP_597681.4:p.Pro7415Arg | |
| NR_038271.1:n.1399G>C (TTN-AS1) | ||
| XM_011511729.1:c.47960C>G (TTN) | XP_011510031.1:p.Pro15987Arg | |
| XM_011511730.1:c.21854C>G (TTN) | XP_011510032.1:p.Pro7285Arg | |
| XM_011511731.1:c.21713C>G (TTN) | XP_011510033.1:p.Pro7238Arg | |
| XM_017004819.1:c.47756C>G (TTN) | XP_016860308.1:p.Pro15919Arg | |
| XM_017004820.1:c.43154C>G (TTN) | XP_016860309.1:p.Pro14385Arg | |
| XM_017004821.1:c.43151C>G (TTN) | XP_016860310.1:p.Pro14384Arg | |
| XM_017004822.1:c.40193C>G (TTN) | XP_016860311.1:p.Pro13398Arg | |
| XM_017004823.1:c.21809C>G (TTN) | XP_016860312.1:p.Pro7270Arg | |
| XM_024453094.1:c.43304C>G (TTN) | XP_024308862.1:p.Pro14435Arg | |
| XM_024453095.1:c.43301C>G (TTN) | XP_024308863.1:p.Pro14434Arg | |
| XM_024453096.1:c.42734C>G (TTN) | XP_024308864.1:p.Pro14245Arg | |
| XM_024453097.1:c.40076C>G (TTN) | XP_024308865.1:p.Pro13359Arg | |
| XM_024453098.1:c.39995C>G (TTN) | XP_024308866.1:p.Pro13332Arg | |
| XM_024453099.1:c.21758C>G (TTN) | XP_024308867.1:p.Pro7253Arg | |
| XM_024453100.1:c.11612C>G (TTN) | XP_024308868.1:p.Pro3871Arg |