Canonical Allele Identifier: CA2175486350

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411140T= , CM000677.2:g.48411140T=	GRCh38
NC_000015.9:g.48703337T= , CM000677.1:g.48703337T=	GRCh37
NC_000015.8:g.46490629T=	NCBI36
NG_008805.2:g.239649A= , LRG_778:g.239649A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1274A=	ENSP00000453958.2:n.*1274A=
ENST00000674301.2:c.*1979A=	ENSP00000501333.2:n.*1979A=
ENST00000682158.1:n.1847A=
ENST00000682170.1:n.2647A=
ENST00000682767.1:n.1763A=
ENST00000316623.10:c.8466A= MANE Select	ENSP00000325527.5:p.Pro2822=
ENST00000674301.1:c.3632A=	ENSP00000501333.1:n.3632A=
ENST00000316623.9:c.8466A=	ENSP00000325527.5:p.Pro2822=
ENST00000559133.5:c.3835A=
NM_000138.4:c.8466A= , LRG_778t1:c.8466A=	NP_000129.3:p.Pro2822=
NM_000138.5:c.8466A= MANE Select	NP_000129.3:p.Pro2822=