Human (GRCh38.p14)
Description

BLM RecQ like helicase [Source:HGNC Symbol;Acc:HGNC:1058]

Gene Synonyms

BS, RECQ2, RECQL3

Location
About this transcript

This transcript has 20 exons, is annotated with 39 domains and features, is associated with 44619 variant alleles and maps to 610 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000355112.8BLM-20152401417aaENSP00000347232.3
 
Protein coding
CCDS10363P54132 NM_000057.4MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P2TSL:1
ENST00000680772.1BLM-21250331417aaENSP00000506117.1
 
Protein coding
CCDS10363P54132 -GENCODE basicAPPRIS P2
ENST00000648453.1BLM-21145221386aaENSP00000497646.1
 
Protein coding
A0A3B3IT82 -GENCODE basicAPPRIS ALT2
ENST00000681142.1BLM-21342701372aaENSP00000506682.1
 
Protein coding
A0A7P0TBM9 -GENCODE basicAPPRIS ALT2
ENST00000560509.5BLM-20839661286aaENSP00000454158.1
 
Protein coding
CCDS73782H0YNU5 -GENCODE basicTSL:1
ENST00000559724.5BLM-2064510413aaENSP00000453359.1
 
Nonsense mediated decay
H0YLV8 -TSL:1
ENST00000560136.5BLM-2072023No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000560821.1BLM-2101024No protein-
 
Protein coding CDS not defined
--TSL:2
ENST00000559282.1BLM-204866No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000558599.1BLM-202577No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000559426.5BLM-205533No protein-
 
Protein coding CDS not defined
--TSL:4
ENST00000560559.2BLM-2092967No protein-
 
Retained intron
--TSL:3
ENST00000558825.5BLM-2031683No protein-
 
Retained intron
--TSL:5
Statistics

Exons: 20, Coding exons: 19, Transcript length: 3,966 bps, Translation length: 1,286 residues

CCDS

This transcript is a member of the Human CCDS set: CCDS73782

Transcript Support Level (TSL)

TSL:1

Version

ENST00000560509.5

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.

GENCODE basic gene

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