Transcript: ENST00000281317.5 MMAA-001

Description

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

Gene Synonyms

cblA

Location

About this transcript

This transcript has 7 exons, is annotated with 8 domains and features, is associated with 16408 variant alleles and maps to 579 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	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: 7, Coding exons: 6, Transcript length: 7,068 bps, Translation length: 418 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q8IVH4

CCDS

This transcript is a member of the Human CCDS set: CCDS3766

Version

ENST00000281317.5

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:	OTTHUMT00000364668 (version 2)

GENCODE basic gene

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