Canonical Allele Identifier: CA2175487945

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412585T= , CM000677.2:g.48412585T=	GRCh38
NC_000015.9:g.48704782T= , CM000677.1:g.48704782T=	GRCh37
NC_000015.8:g.46492074T=	NCBI36
NG_008805.2:g.238204A= , LRG_778:g.238204A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1018A=	ENSP00000453958.2:n.*1018A=
ENST00000674301.2:c.*1723A=	ENSP00000501333.2:n.*1723A=
ENST00000682158.1:n.1591A=
ENST00000682170.1:n.2391A=
ENST00000682767.1:n.1507A=
ENST00000316623.10:c.8210A= MANE Select	ENSP00000325527.5:p.Asp2737=
ENST00000674301.1:c.3376A=	ENSP00000501333.1:n.3376A=
ENST00000316623.9:c.8210A=	ENSP00000325527.5:p.Asp2737=
ENST00000559133.5:c.3579A=
ENST00000561429.1:n.465A=
NM_000138.4:c.8210A= , LRG_778t1:c.8210A=	NP_000129.3:p.Asp2737=
NM_000138.5:c.8210A= MANE Select	NP_000129.3:p.Asp2737=