Canonical Allele Identifier: CA2175486330

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411132C= , CM000677.2:g.48411132C=	GRCh38
NC_000015.9:g.48703329C= , CM000677.1:g.48703329C=	GRCh37
NC_000015.8:g.46490621C=	NCBI36
NG_008805.2:g.239657G= , LRG_778:g.239657G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1282G=	ENSP00000453958.2:n.*1282G=
ENST00000674301.2:c.*1987G=	ENSP00000501333.2:n.*1987G=
ENST00000682158.1:n.1855G=
ENST00000682170.1:n.2655G=
ENST00000682767.1:n.1771G=
ENST00000316623.10:c.8474G= MANE Select	ENSP00000325527.5:p.Gly2825=
ENST00000674301.1:c.3640G=	ENSP00000501333.1:n.3640G=
ENST00000316623.9:c.8474G=	ENSP00000325527.5:p.Gly2825=
ENST00000559133.5:c.3843G=
NM_000138.4:c.8474G= , LRG_778t1:c.8474G=	NP_000129.3:p.Gly2825=
NM_000138.5:c.8474G= MANE Select	NP_000129.3:p.Gly2825=