Canonical Allele Identifier: CA2175486674

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411293G= , CM000677.2:g.48411293G=	GRCh38
NC_000015.9:g.48703490G= , CM000677.1:g.48703490G=	GRCh37
NC_000015.8:g.46490782G=	NCBI36
NG_008805.2:g.239496C= , LRG_778:g.239496C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1121C=	ENSP00000453958.2:n.*1121C=
ENST00000674301.2:c.*1826C=	ENSP00000501333.2:n.*1826C=
ENST00000682158.1:n.1694C=
ENST00000682170.1:n.2494C=
ENST00000682767.1:n.1610C=
ENST00000316623.10:c.8313C= MANE Select	ENSP00000325527.5:p.Val2771=
ENST00000674301.1:c.3479C=	ENSP00000501333.1:n.3479C=
ENST00000316623.9:c.8313C=	ENSP00000325527.5:p.Val2771=
ENST00000559133.5:c.3682C=
ENST00000561429.1:n.568C=
NM_000138.4:c.8313C= , LRG_778t1:c.8313C=	NP_000129.3:p.Val2771=
NM_000138.5:c.8313C= MANE Select	NP_000129.3:p.Val2771=