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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: MYOT ENSG00000120729

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Description

myotilin [Source:HGNC Symbol;Acc:12399]

Gene Synonyms

LGMD1, LGMD1A, MFM3, TTID, TTOD

Location

Chromosome 5: 137,203,480-137,223,540 forward strand.

GRCh37:CM000667.1

About this gene

This gene has 8 transcripts (splice variants), 3 paralogues and is associated with 6 phenotypes.

Transcripts

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	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS4194	B4DT68 Q9UBF9	NM_006790.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000515645.1	MYOT-004	1578	383aa	ENSP00000426281.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4DT68	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000421631.2	MYOT-002	1474	314aa	ENSP00000391185.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS47268	Q9UBF9	NM_001135940.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000509812.1	MYOT-006	563	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000508938.1	MYOT-009	655	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000503748.1	MYOT-008	582	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000511254.1	MYOT-007	579	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000511625.1	MYOT-005	545	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Summary

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