Canonical Allele Identifier: CA2175486082

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410982A= , CM000677.2:g.48410982A=	GRCh38
NC_000015.9:g.48703179A= , CM000677.1:g.48703179A=	GRCh37
NC_000015.8:g.46490471A=	NCBI36
NG_008805.2:g.239807T= , LRG_778:g.239807T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1432T=	ENSP00000453958.2:n.*1432T=
ENST00000682158.1:n.2005T=
ENST00000682170.1:n.2805T=
ENST00000682767.1:n.1921T=
ENST00000316623.10:c.*8T= MANE Select	ENSP00000325527.5:n.*8T=
ENST00000316623.9:c.*8T=	ENSP00000325527.5:n.*8T=
ENST00000559133.5:c.3993T=
NM_000138.4:c.*8T= , LRG_778t1:c.*8T=	NP_000129.3:n.*8T=
NM_000138.5:c.*8T= MANE Select	NP_000129.3:n.*8T=