Canonical Allele Identifier: CA2175486327

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411131T= , CM000677.2:g.48411131T=	GRCh38
NC_000015.9:g.48703328T= , CM000677.1:g.48703328T=	GRCh37
NC_000015.8:g.46490620T=	NCBI36
NG_008805.2:g.239658A= , LRG_778:g.239658A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1283A=	ENSP00000453958.2:n.*1283A=
ENST00000674301.2:c.*1988A=	ENSP00000501333.2:n.*1988A=
ENST00000682158.1:n.1856A=
ENST00000682170.1:n.2656A=
ENST00000682767.1:n.1772A=
ENST00000316623.10:c.8475A= MANE Select	ENSP00000325527.5:p.Gly2825=
ENST00000674301.1:c.3641A=	ENSP00000501333.1:n.3641A=
ENST00000316623.9:c.8475A=	ENSP00000325527.5:p.Gly2825=
ENST00000559133.5:c.3844A=
NM_000138.4:c.8475A= , LRG_778t1:c.8475A=	NP_000129.3:p.Gly2825=
NM_000138.5:c.8475A= MANE Select	NP_000129.3:p.Gly2825=