Human (GRCh38.p14)
Description

5-methyltetrahydrofolate-homocysteine methyltransferase reductase [Source:HGNC Symbol;Acc:HGNC:7473]

Gene Synonyms

CBLE

Location
About this transcript

This transcript has 15 exons, is annotated with 31 domains and features, is associated with 15922 variant alleles and maps to 652 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000440940.7MTRR-2023245698aaENSP00000402510.2
 
Protein coding
CCDS47190Q9UBK8-2 NM_002454.3MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000264668.6MTRR-2013274725aaENSP00000264668.2
 
Protein coding
Q9UBK8-1 -GENCODE basicTSL:1
ENST00000506877.1MTRR-20762841aaENSP00000427416.1
 
Protein coding
D6RIS8 -TSL:3CDS 3' incomplete
ENST00000502550.5MTRR-204567156aaENSP00000424599.1
 
Protein coding
D6RAZ2 -TSL:4CDS 3' incomplete
ENST00000512217.5MTRR-221520112aaENSP00000421318.1
 
Protein coding
D6RGC7 -TSL:4CDS 3' incomplete
ENST00000514220.5MTRR-224478160aaENSP00000423863.1
 
Protein coding
H0Y9D5 -TSL:3CDS 5' and 3' incomplete
ENST00000510525.5MTRR-2183091372aaENSP00000421991.1
 
Nonsense mediated decay
H0Y8S9 -TSL:5CDS 5' incomplete
ENST00000511461.5MTRR-219307681aaENSP00000424719.1
 
Nonsense mediated decay
H0Y9Q0 -TSL:5CDS 5' incomplete
ENST00000513439.5MTRR-223244192aaENSP00000426710.1
 
Nonsense mediated decay
D6RF21 -TSL:1
ENST00000514369.5MTRR-22577958aaENSP00000426132.1
 
Nonsense mediated decay
A0A3P9MRF3 -TSL:5
ENST00000503550.5MTRR-20555646aaENSP00000424644.1
 
Nonsense mediated decay
D6RAY3 -TSL:5
ENST00000510279.5MTRR-21754658aaENSP00000427200.1
 
Nonsense mediated decay
A0A3P9MRF3 -TSL:2
ENST00000508047.5MTRR-211535115aaENSP00000423139.1
 
Nonsense mediated decay
H0Y963 -TSL:4CDS 5' incomplete
ENST00000502509.5MTRR-203711No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000511639.1MTRR-220690No protein-
 
Protein coding CDS not defined
--TSL:2
ENST00000506115.1MTRR-206620No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000508101.5MTRR-212584No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000507837.5MTRR-210574No protein-
 
Protein coding CDS not defined
--TSL:4
ENST00000509961.5MTRR-216492No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000509379.1MTRR-215455No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000507414.1MTRR-209441No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000508354.1MTRR-213556No protein-
 
Retained intron
--TSL:4
ENST00000507202.1MTRR-208495No protein-
 
Retained intron
--TSL:5
ENST00000512311.5MTRR-222386No protein-
 
Retained intron
--TSL:3
ENST00000508890.1MTRR-214346No protein-
 
Retained intron
--TSL:2
Statistics

Exons: 15, Coding exons: 14, Transcript length: 3,245 bps, Translation length: 698 residues

MANE

This MANE Select transcript contains ENSP00000402510 and matches to NM_002454.3 and NP_002445.2

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q9UBK8

CCDS

This transcript is a member of the Human CCDS set: CCDS47190

Transcript Support Level (TSL)

TSL:1

Version

ENST00000440940.7

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.

GENCODE basic gene

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