Human (GRCh38.p14)
Description

myotilin [Source:HGNC Symbol;Acc:HGNC:12399]

Gene Synonyms

LGMD1, LGMD1A, TTID

About this transcript

This transcript has 11 exons, is annotated with 20 domains and features, is associated with 8080 variant alleles and maps to 362 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000239926.9MYOT-2012268498aaENSP00000239926.4
 
Protein coding
CCDS4194A0A0C4DFM5 NM_006790.3MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000515645.1MYOT-2081578383aaENSP00000426281.1
 
Protein coding
CCDS75309B4DT68 -GENCODE basicTSL:2
ENST00000421631.6MYOT-2021474314aaENSP00000391185.2
 
Protein coding
CCDS47268Q9UBF9-2 -GENCODE basicTSL:2
ENST00000509812.5MYOT-205563No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000508938.1MYOT-204655No protein-
 
Retained intron
--TSL:2
ENST00000503748.1MYOT-203582No protein-
 
Retained intron
--TSL:2
ENST00000511254.1MYOT-206579No protein-
 
Retained intron
--TSL:3
ENST00000511625.5MYOT-207545No protein-
 
Retained intron
--TSL:3
Statistics

Exons: 11, Coding exons: 9, Transcript length: 1,578 bps, Translation length: 383 residues

CCDS

This transcript is a member of the Human CCDS set: CCDS75309

Transcript Support Level (TSL)

TSL:2

Version

ENST00000515645.1

Type

Protein coding

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.