Human (GRCh38.p14)
Description

metabolism of cobalamin associated B [Source:HGNC Symbol;Acc:HGNC:19331]

Gene Synonyms

CBLB, CFAP23

Location

Chromosome 12: 109,553,715-109,573,580 reverse strand.

GRCh38:CM000674.2

About this gene

This gene has 10 transcripts (splice variants), 199 orthologues and is associated with 3 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000545712.7MMAB-2104090250aaENSP00000445920.1
 
Protein coding
CCDS9131Q96EY8 NM_052845.4MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000537236.2MMAB-204134297aaENSP00000483818.1
 
Protein coding
A0A087X114 -GENCODE basicTSL:3
ENST00000540016.5MMAB-206945198aaENSP00000474582.1
 
Protein coding
S4R3P5 -GENCODE basicTSL:3
ENST00000541763.6MMAB-2071252173aaENSP00000474981.1
 
Nonsense mediated decay
F5H4Z7 -TSL:3
ENST00000537496.5MMAB-2051188173aaENSP00000444793.1
 
Nonsense mediated decay
F5H4Z7 -TSL:2
ENST00000544051.5MMAB-209108947aaENSP00000438079.1
 
Nonsense mediated decay
F5H0C1 -TSL:3
ENST00000420167.6MMAB-20156197aaENSP00000416136.2
 
Nonsense mediated decay
F5H079 -TSL:4
ENST00000503497.7MMAB-202546148aaENSP00000474881.1
 
Nonsense mediated decay
S4R3Z1 -TSL:5
ENST00000536760.1MMAB-203650No protein-
 
Retained intron
--TSL:2
ENST00000542390.5MMAB-208544No protein-
 
Retained intron
--TSL:2