Canonical Allele Identifier: CA2175486596

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411246A= , CM000677.2:g.48411246A=	GRCh38
NC_000015.9:g.48703443A= , CM000677.1:g.48703443A=	GRCh37
NC_000015.8:g.46490735A=	NCBI36
NG_008805.2:g.239543T= , LRG_778:g.239543T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1168T=	ENSP00000453958.2:n.*1168T=
ENST00000674301.2:c.*1873T=	ENSP00000501333.2:n.*1873T=
ENST00000682158.1:n.1741T=
ENST00000682170.1:n.2541T=
ENST00000682767.1:n.1657T=
ENST00000316623.10:c.8360T= MANE Select	ENSP00000325527.5:p.Leu2787=
ENST00000674301.1:c.3526T=	ENSP00000501333.1:n.3526T=
ENST00000316623.9:c.8360T=	ENSP00000325527.5:p.Leu2787=
ENST00000559133.5:c.3729T=
ENST00000561429.1:n.615T=
NM_000138.4:c.8360T= , LRG_778t1:c.8360T=	NP_000129.3:p.Leu2787=
NM_000138.5:c.8360T= MANE Select	NP_000129.3:p.Leu2787=