Canonical Allele Identifier: CA392320687

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412573A>G , CM000677.2:g.48412573A>G	GRCh38
NC_000015.9:g.48704770A>G , CM000677.1:g.48704770A>G	GRCh37
NC_000015.8:g.46492062A>G	NCBI36
NG_008805.2:g.238216T>C , LRG_778:g.238216T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.8222T>C MANE Select	NP_000129.3:p.Ile2741Thr
ENST00000316623.10:c.8222T>C MANE Select	ENSP00000325527.5:p.Ile2741Thr
NM_000138.4:c.8222T>C , LRG_778t1:c.8222T>C	NP_000129.3:p.Ile2741Thr
ENST00000316623.9:c.8222T>C	ENSP00000325527.5:p.Ile2741Thr
ENST00000559133.5:c.3591T>C
ENST00000559133.6:c.*1030T>C	ENSP00000453958.2:n.*1030T>C
ENST00000561429.1:n.477T>C
ENST00000674301.1:c.3388T>C	ENSP00000501333.1:n.3388T>C
ENST00000674301.2:c.*1735T>C	ENSP00000501333.2:n.*1735T>C
ENST00000682158.1:n.1603T>C
ENST00000682170.1:n.2403T>C
ENST00000682767.1:n.1519T>C