Canonical Allele Identifier: CA2175486600

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411249G= , CM000677.2:g.48411249G=	GRCh38
NC_000015.9:g.48703446G= , CM000677.1:g.48703446G=	GRCh37
NC_000015.8:g.46490738G=	NCBI36
NG_008805.2:g.239540C= , LRG_778:g.239540C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1165C=	ENSP00000453958.2:n.*1165C=
ENST00000674301.2:c.*1870C=	ENSP00000501333.2:n.*1870C=
ENST00000682158.1:n.1738C=
ENST00000682170.1:n.2538C=
ENST00000682767.1:n.1654C=
ENST00000316623.10:c.8357C= MANE Select	ENSP00000325527.5:p.Thr2786=
ENST00000674301.1:c.3523C=	ENSP00000501333.1:n.3523C=
ENST00000316623.9:c.8357C=	ENSP00000325527.5:p.Thr2786=
ENST00000559133.5:c.3726C=
ENST00000561429.1:n.612C=
NM_000138.4:c.8357C= , LRG_778t1:c.8357C=	NP_000129.3:p.Thr2786=
NM_000138.5:c.8357C= MANE Select	NP_000129.3:p.Thr2786=