Canonical Allele Identifier: CA2175486585

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411245C= , CM000677.2:g.48411245C=	GRCh38
NC_000015.9:g.48703442C= , CM000677.1:g.48703442C=	GRCh37
NC_000015.8:g.46490734C=	NCBI36
NG_008805.2:g.239544G= , LRG_778:g.239544G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1169G=	ENSP00000453958.2:n.*1169G=
ENST00000674301.2:c.*1874G=	ENSP00000501333.2:n.*1874G=
ENST00000682158.1:n.1742G=
ENST00000682170.1:n.2542G=
ENST00000682767.1:n.1658G=
ENST00000316623.10:c.8361G= MANE Select	ENSP00000325527.5:p.Leu2787=
ENST00000674301.1:c.3527G=	ENSP00000501333.1:n.3527G=
ENST00000316623.9:c.8361G=	ENSP00000325527.5:p.Leu2787=
ENST00000559133.5:c.3730G=
ENST00000561429.1:n.616G=
NM_000138.4:c.8361G= , LRG_778t1:c.8361G=	NP_000129.3:p.Leu2787=
NM_000138.5:c.8361G= MANE Select	NP_000129.3:p.Leu2787=