Canonical Allele Identifier: CA2175464748

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422058C= , CM000677.2:g.48422058C=	GRCh38
NC_000015.9:g.48714255C= , CM000677.1:g.48714255C=	GRCh37
NC_000015.8:g.46501547C=	NCBI36
NG_008805.2:g.228731G= , LRG_778:g.228731G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*272G=	ENSP00000453958.2:n.*272G=
ENST00000674301.2:c.*977G=	ENSP00000501333.2:n.*977G=
ENST00000682170.1:n.1645G=
ENST00000682767.1:n.761G=
ENST00000316623.10:c.7464G= MANE Select	ENSP00000325527.5:p.Glu2488=
ENST00000674301.1:c.2630G=	ENSP00000501333.1:n.2630G=
ENST00000316623.9:c.7464G=	ENSP00000325527.5:p.Glu2488=
ENST00000559133.5:c.2833G=
NM_000138.4:c.7464G= , LRG_778t1:c.7464G=	NP_000129.3:p.Glu2488=
NM_000138.5:c.7464G= MANE Select	NP_000129.3:p.Glu2488=