Human (GRCh37.p13)
Description

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

Gene Synonyms

ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFS1, OCTD, SGS, SSKS, WMS, WMS2

Location
About this transcript

This transcript has 3 exons, is associated with 2219 variant alleles and maps to 92 oligo probes.

Gene
Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000316623.5FBN1-001117562871aaENSP00000325527.5
 
Protein coding
CCDS32232H0YN80 P35555 Q75N88
Q75N89
NM_000138.4GENCODE basic
ENST00000560355.1FBN1-002410955aaENSP00000453901.1
 
Protein coding
H0YN80 -GENCODE basic
ENST00000559133.1FBN1-0044901853aaENSP00000453958.1
 
Nonsense mediated decay
--CDS 5' incomplete
ENST00000537463.2FBN1-0033766302aaENSP00000440294.2
 
Nonsense mediated decay
F6U495 H0YN80 Q75N89
--
ENST00000561429.1FBN1-009660No protein-
 
Processed transcript
---
ENST00000558230.1FBN1-006482No protein-
 
Processed transcript
---
ENST00000560720.1FBN1-008686No protein-
 
Retained intron
---
ENST00000560820.1FBN1-007579No protein-
 
Retained intron
---
Statistics

Exons: 3, Coding exons: 0, Transcript length: 686 bps,

Version

ENST00000560720.1

Type

Retained intron

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:
OTTHUMT00000417359 (version 1)