Canonical Allele Identifier: CA2175486091

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410999C= , CM000677.2:g.48410999C=	GRCh38
NC_000015.9:g.48703196C= , CM000677.1:g.48703196C=	GRCh37
NC_000015.8:g.46490488C=	NCBI36
NG_008805.2:g.239790G= , LRG_778:g.239790G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1415G=	ENSP00000453958.2:n.*1415G=
ENST00000682158.1:n.1988G=
ENST00000682170.1:n.2788G=
ENST00000682767.1:n.1904G=
ENST00000316623.10:c.8607G= MANE Select	ENSP00000325527.5:p.Leu2869=
ENST00000316623.9:c.8607G=	ENSP00000325527.5:p.Leu2869=
ENST00000559133.5:c.3976G=
NM_000138.4:c.8607G= , LRG_778t1:c.8607G=	NP_000129.3:p.Leu2869=
NM_000138.5:c.8607G= MANE Select	NP_000129.3:p.Leu2869=