Gene: MTM1 ENSG00000171100

Description

myotubularin 1 [Source:HGNC Symbol;Acc:7448]

Gene Synonyms

CG2, CNM, MTMX, XLMTM

Location

Chromosome X: 149,737,069-149,841,795 forward strand.

GRCh37:CM000685.1

View alleles of this gene on alternative sequences

About this gene

This gene has 8 transcripts (splice variants), 1 gene allele, 13 paralogues and is associated with 5 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000370396.2	MTM1-002	3593	603aa	ENSP00000359423.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS14694	B7Z499 Q13496	NM_000252.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000543350.1	MTM1-203	1954	488aa	ENSP00000439784.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B7Z499	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000542741.1	MTM1-202	1943	416aa	ENSP00000444015.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F5H1N3	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000413012.2	MTM1-201	1774	566aa	ENSP00000389157.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B7Z491 B7Z499	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000424519.1	MTM1-005	361	103aa	ENSP00000400699.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9J2A2	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000306167.7	MTM1-003	2955	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000490530.1	MTM1-004	806	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000370393.1	MTM1-001	607	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

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Gene: MTM1 ENSG00000171100

Summary