Revel Score:
ENST00000342992
0.305
ENST00000460472
0.305
ENST00000342175
0.305
ENST00000359218
0.305
ENST00000356127
0.305
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000501 (NFE)
Exomes Max Group AF
0.00000531 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614543C>A , CM000664.2:g.178614543C>A | GRCh38 |
| NC_000002.11:g.179479270C>A , CM000664.1:g.179479270C>A | GRCh37 |
| NC_000002.10:g.179187515C>A | NCBI36 |
| NG_011618.3:g.221260G>T , LRG_391:g.221260G>T | |
| NG_051363.1:g.96717C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41267G>T (TTN) | ENSP00000343764.6:p.Ser13756Ile | |
| ENST00000342175.11:c.22352G>T (TTN) | ENSP00000340554.6:p.Ser7451Ile | |
| ENST00000359218.10:c.22151G>T (TTN) | ENSP00000352154.5:p.Ser7384Ile | |
| ENST00000342175.10:c.22352G>T (TTN) | ENSP00000340554.6:p.Ser7451Ile | |
| ENST00000342992.10:c.41267G>T (TTN) | ENSP00000343764.6:p.Ser13756Ile | |
| ENST00000359218.9:c.22151G>T (TTN) | ENSP00000352154.5:p.Ser7384Ile | |
| ENST00000460472.6:c.21776G>T (TTN) | ENSP00000434586.1:p.Ser7259Ile | |
| ENST00000589042.5:c.48971G>T (TTN) MANE Select | ENSP00000467141.1:p.Ser16324Ile | |
| ENST00000591111.5:c.44048G>T (TTN) | ENSP00000465570.1:p.Ser14683Ile | |
| ENST00000615779.4:c.44048G>T (TTN) | ENSP00000483597.1:p.Ser14683Ile | |
| NM_001256850.1:c.44048G>T (TTN) | NP_001243779.1:p.Ser14683Ile | |
| NM_001267550.2:c.48971G>T (TTN) MANE Select | NP_001254479.2:p.Ser16324Ile | |
| NM_003319.4:c.21776G>T (TTN) | NP_003310.4:p.Ser7259Ile | |
| NM_133378.4:c.41267G>T (TTN) | NP_596869.4:p.Ser13756Ile | |
| NM_133432.3:c.22151G>T (TTN) | NP_597676.3:p.Ser7384Ile | |
| NM_133437.4:c.22352G>T (TTN) | NP_597681.4:p.Ser7451Ile | |
| NR_038271.1:n.1291C>A (TTN-AS1) | ||
| XM_011511729.1:c.48068G>T (TTN) | XP_011510031.1:p.Ser16023Ile | |
| XM_011511730.1:c.21962G>T (TTN) | XP_011510032.1:p.Ser7321Ile | |
| XM_011511731.1:c.21821G>T (TTN) | XP_011510033.1:p.Ser7274Ile | |
| XM_017004819.1:c.47864G>T (TTN) | XP_016860308.1:p.Ser15955Ile | |
| XM_017004820.1:c.43262G>T (TTN) | XP_016860309.1:p.Ser14421Ile | |
| XM_017004821.1:c.43259G>T (TTN) | XP_016860310.1:p.Ser14420Ile | |
| XM_017004822.1:c.40301G>T (TTN) | XP_016860311.1:p.Ser13434Ile | |
| XM_017004823.1:c.21917G>T (TTN) | XP_016860312.1:p.Ser7306Ile | |
| XM_024453094.1:c.43412G>T (TTN) | XP_024308862.1:p.Ser14471Ile | |
| XM_024453095.1:c.43409G>T (TTN) | XP_024308863.1:p.Ser14470Ile | |
| XM_024453096.1:c.42842G>T (TTN) | XP_024308864.1:p.Ser14281Ile | |
| XM_024453097.1:c.40184G>T (TTN) | XP_024308865.1:p.Ser13395Ile | |
| XM_024453098.1:c.40103G>T (TTN) | XP_024308866.1:p.Ser13368Ile | |
| XM_024453099.1:c.21866G>T (TTN) | XP_024308867.1:p.Ser7289Ile | |
| XM_024453100.1:c.11720G>T (TTN) | XP_024308868.1:p.Ser3907Ile |