Canonical Allele Identifier: CA2175498167

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428396C= , CM000677.2:g.48428396C=	GRCh38
NC_000015.9:g.48720593C= , CM000677.1:g.48720593C=	GRCh37
NC_000015.8:g.46507885C=	NCBI36
NG_008805.2:g.222393G= , LRG_778:g.222393G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6947G=	ENSP00000453958.2:p.Cys2316=
ENST00000674301.2:c.*398G=	ENSP00000501333.2:n.*398G=
ENST00000682170.1:n.556G=
ENST00000682767.1:n.182G=
ENST00000316623.10:c.6947G= MANE Select	ENSP00000325527.5:p.Cys2316=
ENST00000674301.1:c.2051G=	ENSP00000501333.1:n.2051G=
ENST00000316623.9:c.6947G=	ENSP00000325527.5:p.Cys2316=
ENST00000559133.5:c.2254G=
ENST00000560720.1:n.234G=
NM_000138.4:c.6947G= , LRG_778t1:c.6947G=	NP_000129.3:p.Cys2316=
NM_000138.5:c.6947G= MANE Select	NP_000129.3:p.Cys2316=