Canonical Allele Identifier: CA2175486262

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411110A= , CM000677.2:g.48411110A=	GRCh38
NC_000015.9:g.48703307A= , CM000677.1:g.48703307A=	GRCh37
NC_000015.8:g.46490599A=	NCBI36
NG_008805.2:g.239679T= , LRG_778:g.239679T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1304T=	ENSP00000453958.2:n.*1304T=
ENST00000674301.2:c.*2009T=	ENSP00000501333.2:n.*2009T=
ENST00000682158.1:n.1877T=
ENST00000682170.1:n.2677T=
ENST00000682767.1:n.1793T=
ENST00000316623.10:c.8496T= MANE Select	ENSP00000325527.5:p.Ser2832=
ENST00000674301.1:c.3662T=	ENSP00000501333.1:n.3662T=
ENST00000316623.9:c.8496T=	ENSP00000325527.5:p.Ser2832=
ENST00000559133.5:c.3865T=
NM_000138.4:c.8496T= , LRG_778t1:c.8496T=	NP_000129.3:p.Ser2832=
NM_000138.5:c.8496T= MANE Select	NP_000129.3:p.Ser2832=