myotilin [Source:HGNC Symbol;Acc:12399]
LGMD1, LGMD1A, MFM3, TTID, TTOD
Chromosome 5: 137,216,304-137,221,856 forward strand.
This transcript has 3 exons, is associated with 2294 variant alleles and maps to 158 oligo probes.
This transcript is a product of gene ENSG00000120729.5 Show transcript tableHide transcript table
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000239926.4 | MYOT-001 | 2337 | 498aa | ENSP00000239926.4 | Protein coding | CCDS4194 | B4DT68 Q9UBF9 | NM_006790.2 | GENCODE basic, |
ENST00000515645.1 | MYOT-004 | 1578 | 383aa | ENSP00000426281.1 | Protein coding | B4DT68 | - | GENCODE basic, | |
ENST00000421631.2 | MYOT-002 | 1474 | 314aa | ENSP00000391185.2 | Protein coding | CCDS47268 | Q9UBF9 | NM_001135940.1 | GENCODE basic, |
ENST00000509812.1 | MYOT-006 | 563 | No protein | - | Processed transcript | - | - | - | |
ENST00000508938.1 | MYOT-009 | 655 | No protein | - | Retained intron | - | - | - | |
ENST00000503748.1 | MYOT-008 | 582 | No protein | - | Retained intron | - | - | - | |
ENST00000511254.1 | MYOT-007 | 579 | No protein | - | Retained intron | - | - | - | |
ENST00000511625.1 | MYOT-005 | 545 | No protein | - | Retained intron | - | - | - |