Canonical Allele Identifier: CA2175486457

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411189A= , CM000677.2:g.48411189A=	GRCh38
NC_000015.9:g.48703386A= , CM000677.1:g.48703386A=	GRCh37
NC_000015.8:g.46490678A=	NCBI36
NG_008805.2:g.239600T= , LRG_778:g.239600T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1225T=	ENSP00000453958.2:n.*1225T=
ENST00000674301.2:c.*1930T=	ENSP00000501333.2:n.*1930T=
ENST00000682158.1:n.1798T=
ENST00000682170.1:n.2598T=
ENST00000682767.1:n.1714T=
ENST00000316623.10:c.8417T= MANE Select	ENSP00000325527.5:p.Ile2806=
ENST00000674301.1:c.3583T=	ENSP00000501333.1:n.3583T=
ENST00000316623.9:c.8417T=	ENSP00000325527.5:p.Ile2806=
ENST00000559133.5:c.3786T=
NM_000138.4:c.8417T= , LRG_778t1:c.8417T=	NP_000129.3:p.Ile2806=
NM_000138.5:c.8417T= MANE Select	NP_000129.3:p.Ile2806=