Transcript: ENST00000421631.2 MYOT-002

Description

myotilin [Source:HGNC Symbol;Acc:12399]

Gene Synonyms

LGMD1, LGMD1A, MFM3, TTID, TTOD

Location

Chromosome 5: 137,203,547-137,223,226 forward strand.

About this transcript

This transcript has 10 exons, is annotated with 15 domains and features, is associated with 8085 variant alleles and maps to 341 oligo probes.

Gene

This transcript is a product of gene ENSG00000120729.5 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		-	-	-

Summary

Statistics

Exons: 10, Coding exons: 7, Transcript length: 1,474 bps, Translation length: 314 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q9UBF9

CCDS

This transcript is a member of the Human CCDS set: CCDS47268

Version

ENST00000421631.2

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:	OTTHUMT00000372396 (version 2)

GENCODE basic gene

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

Favourite species

All species

Recent locations

Transcript: ENST00000421631.2 MYOT-002

Summary