Canonical Allele Identifier: CA2175486276

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411114A= , CM000677.2:g.48411114A=	GRCh38
NC_000015.9:g.48703311A= , CM000677.1:g.48703311A=	GRCh37
NC_000015.8:g.46490603A=	NCBI36
NG_008805.2:g.239675T= , LRG_778:g.239675T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1300T=	ENSP00000453958.2:n.*1300T=
ENST00000674301.2:c.*2005T=	ENSP00000501333.2:n.*2005T=
ENST00000682158.1:n.1873T=
ENST00000682170.1:n.2673T=
ENST00000682767.1:n.1789T=
ENST00000316623.10:c.8492T= MANE Select	ENSP00000325527.5:p.Ile2831=
ENST00000674301.1:c.3658T=	ENSP00000501333.1:n.3658T=
ENST00000316623.9:c.8492T=	ENSP00000325527.5:p.Ile2831=
ENST00000559133.5:c.3861T=
NM_000138.4:c.8492T= , LRG_778t1:c.8492T=	NP_000129.3:p.Ile2831=
NM_000138.5:c.8492T= MANE Select	NP_000129.3:p.Ile2831=