Canonical Allele Identifier: CA2175486302

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411126T= , CM000677.2:g.48411126T=	GRCh38
NC_000015.9:g.48703323T= , CM000677.1:g.48703323T=	GRCh37
NC_000015.8:g.46490615T=	NCBI36
NG_008805.2:g.239663A= , LRG_778:g.239663A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1288A=	ENSP00000453958.2:n.*1288A=
ENST00000674301.2:c.*1993A=	ENSP00000501333.2:n.*1993A=
ENST00000682158.1:n.1861A=
ENST00000682170.1:n.2661A=
ENST00000682767.1:n.1777A=
ENST00000316623.10:c.8480A= MANE Select	ENSP00000325527.5:p.Tyr2827=
ENST00000674301.1:c.3646A=	ENSP00000501333.1:n.3646A=
ENST00000316623.9:c.8480A=	ENSP00000325527.5:p.Tyr2827=
ENST00000559133.5:c.3849A=
NM_000138.4:c.8480A= , LRG_778t1:c.8480A=	NP_000129.3:p.Tyr2827=
NM_000138.5:c.8480A= MANE Select	NP_000129.3:p.Tyr2827=