Canonical Allele Identifier: CA2175502802

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430764C= , CM000677.2:g.48430764C=	GRCh38
NC_000015.9:g.48722961C= , CM000677.1:g.48722961C=	GRCh37
NC_000015.8:g.46510253C=	NCBI36
NG_008805.2:g.220025G= , LRG_778:g.220025G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6778G=	ENSP00000453958.2:p.Glu2260=
ENST00000674301.2:c.*229G=	ENSP00000501333.2:n.*229G=
ENST00000682170.1:n.387G=
ENST00000316623.10:c.6778G= MANE Select	ENSP00000325527.5:p.Glu2260=
ENST00000674301.1:c.1882G=	ENSP00000501333.1:n.1882G=
ENST00000316623.9:c.6778G=	ENSP00000325527.5:p.Glu2260=
ENST00000537463.6:c.*2541G=	ENSP00000440294.2:n.*2541G=
ENST00000559133.5:c.2085G=
ENST00000560720.1:n.65G=
NM_000138.4:c.6778G= , LRG_778t1:c.6778G=	NP_000129.3:p.Glu2260=
NM_000138.5:c.6778G= MANE Select	NP_000129.3:p.Glu2260=