Canonical Allele Identifier: CA2175486127

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411062T= , CM000677.2:g.48411062T=	GRCh38
NC_000015.9:g.48703259T= , CM000677.1:g.48703259T=	GRCh37
NC_000015.8:g.46490551T=	NCBI36
NG_008805.2:g.239727A= , LRG_778:g.239727A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1352A=	ENSP00000453958.2:n.*1352A=
ENST00000682158.1:n.1925A=
ENST00000682170.1:n.2725A=
ENST00000682767.1:n.1841A=
ENST00000316623.10:c.8544A= MANE Select	ENSP00000325527.5:p.Lys2848=
ENST00000316623.9:c.8544A=	ENSP00000325527.5:p.Lys2848=
ENST00000559133.5:c.3913A=
NM_000138.4:c.8544A= , LRG_778t1:c.8544A=	NP_000129.3:p.Lys2848=
NM_000138.5:c.8544A= MANE Select	NP_000129.3:p.Lys2848=