Canonical Allele Identifier: CA2175488077

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412736C= , CM000677.2:g.48412736C=	GRCh38
NC_000015.9:g.48704933C= , CM000677.1:g.48704933C=	GRCh37
NC_000015.8:g.46492225C=	NCBI36
NG_008805.2:g.238053G= , LRG_778:g.238053G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*867G=	ENSP00000453958.2:n.*867G=
ENST00000674301.2:c.*1572G=	ENSP00000501333.2:n.*1572G=
ENST00000682158.1:n.1440G=
ENST00000682170.1:n.2240G=
ENST00000682767.1:n.1356G=
ENST00000316623.10:c.8059G= MANE Select	ENSP00000325527.5:p.Val2687=
ENST00000674301.1:c.3225G=	ENSP00000501333.1:n.3225G=
ENST00000316623.9:c.8059G=	ENSP00000325527.5:p.Val2687=
ENST00000559133.5:c.3428G=
ENST00000561429.1:n.314G=
NM_000138.4:c.8059G= , LRG_778t1:c.8059G=	NP_000129.3:p.Val2687=
NM_000138.5:c.8059G= MANE Select	NP_000129.3:p.Val2687=