Human (GRCh38.p14)
Description

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

Gene Synonyms

FBN, MASS, MFS1, OCTD, SGS, WMS

Location
About this transcript

This transcript has 66 exons, is annotated with 415 domains and features, is associated with 103055 variant alleles and maps to 1804 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000316623.10FBN1-201116092871aaENSP00000325527.5
 
Protein coding
CCDS32232P35555 NM_000138.5MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000560355.1FBN1-205410955aaENSP00000453901.1
 
Protein coding
H0YN80 -GENCODE basicTSL:1
ENST00000559133.6FBN1-20499102417aaENSP00000453958.2
 
Nonsense mediated decay
H0YND0 -TSL:1
ENST00000674301.2FBN1-20889952217aaENSP00000501333.2
 
Nonsense mediated decay
A0A6I8PL22 --
ENST00000537463.6FBN1-2023766302aaENSP00000440294.2
 
Nonsense mediated decay
F6U495 -TSL:5
ENST00000561429.1FBN1-207660No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000558230.1FBN1-203482No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000682170.1FBN1-2105283No protein-
 
Retained intron
---
ENST00000684448.1FBN1-2135150No protein-
 
Retained intron
---
ENST00000682767.1FBN1-2114399No protein-
 
Retained intron
---
ENST00000682158.1FBN1-2092885No protein-
 
Retained intron
---
ENST00000683268.1FBN1-212967No protein-
 
Retained intron
---
ENST00000560820.1FBN1-206579No protein-
 
Retained intron
--TSL:3

Protein domains for ENSP00000325527.5