Canonical Allele Identifier: CA2175485812

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410581T= , CM000677.2:g.48410581T=	GRCh38
NC_000015.9:g.48702778T= , CM000677.1:g.48702778T=	GRCh37
NC_000015.8:g.46490070T=	NCBI36
NG_008805.2:g.240208A= , LRG_778:g.240208A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1833A=	ENSP00000453958.2:n.*1833A=
ENST00000682158.1:n.2406A=
ENST00000682170.1:n.3206A=
ENST00000682767.1:n.2322A=
ENST00000316623.10:c.*409A= MANE Select	ENSP00000325527.5:n.*409A=
ENST00000316623.9:c.*409A=	ENSP00000325527.5:n.*409A=
ENST00000559133.5:c.4394A=
NM_000138.4:c.*409A= , LRG_778t1:c.*409A=	NP_000129.3:n.*409A=
NM_000138.5:c.*409A= MANE Select	NP_000129.3:n.*409A=