Canonical Allele Identifier: CA2175486827

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411373A= , CM000677.2:g.48411373A=	GRCh38
NC_000015.9:g.48703570A= , CM000677.1:g.48703570A=	GRCh37
NC_000015.8:g.46490862A=	NCBI36
NG_008805.2:g.239416T= , LRG_778:g.239416T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1041T=	ENSP00000453958.2:n.*1041T=
ENST00000674301.2:c.*1746T=	ENSP00000501333.2:n.*1746T=
ENST00000682158.1:n.1614T=
ENST00000682170.1:n.2414T=
ENST00000682767.1:n.1530T=
ENST00000316623.10:c.8233T= MANE Select	ENSP00000325527.5:p.Ser2745=
ENST00000674301.1:c.3399T=	ENSP00000501333.1:n.3399T=
ENST00000316623.9:c.8233T=	ENSP00000325527.5:p.Ser2745=
ENST00000559133.5:c.3602T=
ENST00000561429.1:n.488T=
NM_000138.4:c.8233T= , LRG_778t1:c.8233T=	NP_000129.3:p.Ser2745=
NM_000138.5:c.8233T= MANE Select	NP_000129.3:p.Ser2745=