Canonical Allele Identifier: CA2175486273

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411113G= , CM000677.2:g.48411113G=	GRCh38
NC_000015.9:g.48703310G= , CM000677.1:g.48703310G=	GRCh37
NC_000015.8:g.46490602G=	NCBI36
NG_008805.2:g.239676C= , LRG_778:g.239676C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1301C=	ENSP00000453958.2:n.*1301C=
ENST00000674301.2:c.*2006C=	ENSP00000501333.2:n.*2006C=
ENST00000682158.1:n.1874C=
ENST00000682170.1:n.2674C=
ENST00000682767.1:n.1790C=
ENST00000316623.10:c.8493C= MANE Select	ENSP00000325527.5:p.Ile2831=
ENST00000674301.1:c.3659C=	ENSP00000501333.1:n.3659C=
ENST00000316623.9:c.8493C=	ENSP00000325527.5:p.Ile2831=
ENST00000559133.5:c.3862C=
NM_000138.4:c.8493C= , LRG_778t1:c.8493C=	NP_000129.3:p.Ile2831=
NM_000138.5:c.8493C= MANE Select	NP_000129.3:p.Ile2831=