Revel Score:
ENST00000342992
0.321
ENST00000460472
0.321
ENST00000342175
0.321
ENST00000359218
0.321
ENST00000356127
0.321
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000875 (SAS)
Exomes Max Group AF
0.00000924 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178586714G>C , CM000664.2:g.178586714G>C | GRCh38 |
| NC_000002.11:g.179451441G>C , CM000664.1:g.179451441G>C | GRCh37 |
| NC_000002.10:g.179159687G>C | NCBI36 |
| NG_011618.3:g.249089C>G , LRG_391:g.249089C>G | |
| NG_051363.1:g.68888G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56483C>G (TTN) | ENSP00000343764.6:p.Ala18828Gly | |
| ENST00000342175.11:c.37568C>G (TTN) | ENSP00000340554.6:p.Ala12523Gly | |
| ENST00000359218.10:c.37367C>G (TTN) | ENSP00000352154.5:p.Ala12456Gly | |
| ENST00000342175.10:c.37568C>G (TTN) | ENSP00000340554.6:p.Ala12523Gly | |
| ENST00000342992.10:c.56483C>G (TTN) | ENSP00000343764.6:p.Ala18828Gly | |
| ENST00000359218.9:c.37367C>G (TTN) | ENSP00000352154.5:p.Ala12456Gly | |
| ENST00000460472.6:c.36992C>G (TTN) | ENSP00000434586.1:p.Ala12331Gly | |
| ENST00000589042.5:c.64187C>G (TTN) MANE Select | ENSP00000467141.1:p.Ala21396Gly | |
| ENST00000591111.5:c.59264C>G (TTN) | ENSP00000465570.1:p.Ala19755Gly | |
| ENST00000615779.4:c.59264C>G (TTN) | ENSP00000483597.1:p.Ala19755Gly | |
| NM_001256850.1:c.59264C>G (TTN) | NP_001243779.1:p.Ala19755Gly | |
| NM_001267550.2:c.64187C>G (TTN) MANE Select | NP_001254479.2:p.Ala21396Gly | |
| NM_003319.4:c.36992C>G (TTN) | NP_003310.4:p.Ala12331Gly | |
| NM_133378.4:c.56483C>G (TTN) | NP_596869.4:p.Ala18828Gly | |
| NM_133432.3:c.37367C>G (TTN) | NP_597676.3:p.Ala12456Gly | |
| NM_133437.4:c.37568C>G (TTN) | NP_597681.4:p.Ala12523Gly | |
| NR_038271.1:n.597-10882G>C (TTN-AS1) | ||
| NR_038272.1:n.3188+1721G>C (TTN-AS1) | ||
| XM_011511729.1:c.63284C>G (TTN) | XP_011510031.1:p.Ala21095Gly | |
| XM_011511730.1:c.37178C>G (TTN) | XP_011510032.1:p.Ala12393Gly | |
| XM_011511731.1:c.37037C>G (TTN) | XP_011510033.1:p.Ala12346Gly | |
| XM_017004819.1:c.63080C>G (TTN) | XP_016860308.1:p.Ala21027Gly | |
| XM_017004820.1:c.58478C>G (TTN) | XP_016860309.1:p.Ala19493Gly | |
| XM_017004821.1:c.58475C>G (TTN) | XP_016860310.1:p.Ala19492Gly | |
| XM_017004822.1:c.55517C>G (TTN) | XP_016860311.1:p.Ala18506Gly | |
| XM_017004823.1:c.37133C>G (TTN) | XP_016860312.1:p.Ala12378Gly | |
| XM_024453094.1:c.58628C>G (TTN) | XP_024308862.1:p.Ala19543Gly | |
| XM_024453095.1:c.58625C>G (TTN) | XP_024308863.1:p.Ala19542Gly | |
| XM_024453096.1:c.58058C>G (TTN) | XP_024308864.1:p.Ala19353Gly | |
| XM_024453097.1:c.55400C>G (TTN) | XP_024308865.1:p.Ala18467Gly | |
| XM_024453098.1:c.55319C>G (TTN) | XP_024308866.1:p.Ala18440Gly | |
| XM_024453099.1:c.37082C>G (TTN) | XP_024308867.1:p.Ala12361Gly | |
| XM_024453100.1:c.26936C>G (TTN) | XP_024308868.1:p.Ala8979Gly |