Transcript: ENST00000506919.1 MMAA-004

Description

methylmalonic aciduria (cobalamin deficiency) cblA type [Source:HGNC Symbol;Acc:18871]

Gene Synonyms

cblA

Location

About this transcript

This transcript has 4 exons, is associated with 10708 variant alleles and maps to 229 oligo probes.

Gene

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000281317.5	MMAA-001	7068	418aa	ENSP00000281317.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS3766	Q495G6 Q8IVH4	NM_172250.2	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,
ENST00000541599.1	MMAA-201	1352	137aa	ENSP00000442284.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q495G6	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000511969.1	MMAA-002	1352	260aa	ENSP00000427422.1	Nonsense mediated decay		D6RIS5	-	-
ENST00000506919.1	MMAA-004	1687	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000503730.1	MMAA-005	727	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: 4, Coding exons: 0, Transcript length: 1,687 bps,

Version

ENST00000506919.1

Type

Retained intron

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:	OTTHUMT00000364667 (version 1)