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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	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, 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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