Canonical Allele Identifier: CA2175463278

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421563C= , CM000677.2:g.48421563C=	GRCh38
NC_000015.9:g.48713760C= , CM000677.1:g.48713760C=	GRCh37
NC_000015.8:g.46501052C=	NCBI36
NG_008805.2:g.229226G= , LRG_778:g.229226G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*502G=	ENSP00000453958.2:n.*502G=
ENST00000674301.2:c.*1207G=	ENSP00000501333.2:n.*1207G=
ENST00000682170.1:n.1875G=
ENST00000682767.1:n.991G=
ENST00000316623.10:c.7694G= MANE Select	ENSP00000325527.5:p.Cys2565=
ENST00000674301.1:c.2860G=	ENSP00000501333.1:n.2860G=
ENST00000316623.9:c.7694G=	ENSP00000325527.5:p.Cys2565=
ENST00000559133.5:c.3063G=
NM_000138.4:c.7694G= , LRG_778t1:c.7694G=	NP_000129.3:p.Cys2565=
NM_000138.5:c.7694G= MANE Select	NP_000129.3:p.Cys2565=