Transcript: ENST00000370396.2 MTM1-002

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.

About this transcript

This transcript has 15 exons, is annotated with 15 domains and features, is associated with 29851 variant alleles and maps to 752 oligo probes.

Gene

This transcript is a product of gene ENSG00000171100.10 Show transcript tableHide transcript table

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	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,
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		-	-	-

Summary

Statistics

Exons: 15, Coding exons: 14, Transcript length: 3,593 bps, Translation length: 603 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q13496

CCDS

This transcript is a member of the Human CCDS set: CCDS14694

Version

ENST00000370396.2

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:	OTTHUMT00000060847 (version 3)

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.

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Transcript: ENST00000370396.2 MTM1-002

Summary