Canonical Allele Identifier: CA2175464426

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421997A= , CM000677.2:g.48421997A=	GRCh38
NC_000015.9:g.48714194A= , CM000677.1:g.48714194A=	GRCh37
NC_000015.8:g.46501486A=	NCBI36
NG_008805.2:g.228792T= , LRG_778:g.228792T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*333T=	ENSP00000453958.2:n.*333T=
ENST00000674301.2:c.*1038T=	ENSP00000501333.2:n.*1038T=
ENST00000682170.1:n.1706T=
ENST00000682767.1:n.822T=
ENST00000316623.10:c.7525T= MANE Select	ENSP00000325527.5:p.Cys2509=
ENST00000674301.1:c.2691T=	ENSP00000501333.1:n.2691T=
ENST00000316623.9:c.7525T=	ENSP00000325527.5:p.Cys2509=
ENST00000559133.5:c.2894T=
NM_000138.4:c.7525T= , LRG_778t1:c.7525T=	NP_000129.3:p.Cys2509=
NM_000138.5:c.7525T= MANE Select	NP_000129.3:p.Cys2509=