Canonical Allele Identifier: CA2175486364

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411144T= , CM000677.2:g.48411144T=	GRCh38
NC_000015.9:g.48703341T= , CM000677.1:g.48703341T=	GRCh37
NC_000015.8:g.46490633T=	NCBI36
NG_008805.2:g.239645A= , LRG_778:g.239645A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1270A=	ENSP00000453958.2:n.*1270A=
ENST00000674301.2:c.*1975A=	ENSP00000501333.2:n.*1975A=
ENST00000682158.1:n.1843A=
ENST00000682170.1:n.2643A=
ENST00000682767.1:n.1759A=
ENST00000316623.10:c.8462A= MANE Select	ENSP00000325527.5:p.Lys2821=
ENST00000674301.1:c.3628A=	ENSP00000501333.1:n.3628A=
ENST00000316623.9:c.8462A=	ENSP00000325527.5:p.Lys2821=
ENST00000559133.5:c.3831A=
NM_000138.4:c.8462A= , LRG_778t1:c.8462A=	NP_000129.3:p.Lys2821=
NM_000138.5:c.8462A= MANE Select	NP_000129.3:p.Lys2821=