Canonical Allele Identifier: CA2175492270

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425399T= , CM000677.2:g.48425399T=	GRCh38
NC_000015.9:g.48717596T= , CM000677.1:g.48717596T=	GRCh37
NC_000015.8:g.46504888T=	NCBI36
NG_008805.2:g.225390A= , LRG_778:g.225390A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*231A=	ENSP00000453958.2:n.*231A=
ENST00000674301.2:c.*936A=	ENSP00000501333.2:n.*936A=
ENST00000682170.1:n.1604A=
ENST00000682767.1:n.720A=
ENST00000316623.10:c.7423A= MANE Select	ENSP00000325527.5:p.Ile2475=
ENST00000674301.1:c.2589A=	ENSP00000501333.1:n.2589A=
ENST00000316623.9:c.7423A=	ENSP00000325527.5:p.Ile2475=
ENST00000559133.5:c.2792A=
NM_000138.4:c.7423A= , LRG_778t1:c.7423A=	NP_000129.3:p.Ile2475=
NM_000138.5:c.7423A= MANE Select	NP_000129.3:p.Ile2475=