Description

fibrillin 1 [Source:HGNC Symbol;Acc:HGNC:3603]

Synonyms

FBN, MASS, MFS1, OCTD, SGS, WMS

Location
About this transcript

This transcript has 66 exons, is annotated with 411 domains and features, is associated with 2368 variations and maps to 98 oligo probes.

Gene
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
FBN1-001ENST00000316623117562871aaENSP00000325527
 
Protein coding
CCDS32232P35555 NM_000138
NP_000129
TSL:1GENCODE basicAPPRIS P1
FBN1-002ENST00000560355410955aaENSP00000453901
 
Protein coding
-H0YN80 -TSL:1GENCODE basic
FBN1-004ENST000005591334901853aaENSP00000453958
 
Nonsense mediated decay
-H0YND0 -CDS 5' incompleteTSL:1
FBN1-003ENST000005374633766302aaENSP00000440294
 
Nonsense mediated decay
-F6U495 -TSL:5
FBN1-009ENST00000561429660No protein-
 
Processed transcript
---TSL:5
FBN1-006ENST00000558230482No protein-
 
Processed transcript
---TSL:3
FBN1-008ENST00000560720686No protein-
 
Retained intron
---TSL:3
FBN1-007ENST00000560820579No protein-
 
Retained intron
---TSL:3

Protein domains for ENSP00000325527.5

Transcript-based displays