Human (GRCh38.p14)
Description

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

Gene Synonyms

LGMD1, LGMD1A, TTID

Location

Chromosome 5: 137,867,858-137,887,851 forward strand.

GRCh38:CM000667.2

About this gene

This gene has 8 transcripts (splice variants), 191 orthologues, 9 paralogues and is associated with 4 phenotypes.

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