Description

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

Synonyms

LGMD1, LGMD1A, TTID

Location

Chromosome 5: 137,867,791-137,887,851 forward strand.

GRCh38:CM000667.2

About this gene

This gene has 8 transcripts (splice variants), 68 orthologues, 2 paralogues, is a member of 1 Ensembl protein family and is associated with 3 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
MYOT-001ENST000002399262337498aaENSP00000239926
 
Protein coding
CCDS4194A0A0C4DFM5 NM_006790
NP_006781
TSL:1GENCODE basicAPPRIS P1
MYOT-004ENST000005156451578383aaENSP00000426281
 
Protein coding
CCDS75309B4DT68 NM_001300911
NP_001287840
TSL:2GENCODE basic
MYOT-002ENST000004216311474314aaENSP00000391185
 
Protein coding
CCDS47268Q9UBF9 NM_001135940
NP_001129412
TSL:2GENCODE basic
MYOT-006ENST00000509812563No protein-
 
Processed transcript
---TSL:3
MYOT-009ENST00000508938655No protein-
 
Retained intron
---TSL:2
MYOT-008ENST00000503748582No protein-
 
Retained intron
---TSL:2
MYOT-007ENST00000511254579No protein-
 
Retained intron
---TSL:3
MYOT-005ENST00000511625545No protein-
 
Retained intron
---TSL:3

Gene-based displays