Canonical Allele Identifier: CA2175488053

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412696G= , CM000677.2:g.48412696G=	GRCh38
NC_000015.9:g.48704893G= , CM000677.1:g.48704893G=	GRCh37
NC_000015.8:g.46492185G=	NCBI36
NG_008805.2:g.238093C= , LRG_778:g.238093C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*907C=	ENSP00000453958.2:n.*907C=
ENST00000674301.2:c.*1612C=	ENSP00000501333.2:n.*1612C=
ENST00000682158.1:n.1480C=
ENST00000682170.1:n.2280C=
ENST00000682767.1:n.1396C=
ENST00000316623.10:c.8099C= MANE Select	ENSP00000325527.5:p.Pro2700=
ENST00000674301.1:c.3265C=	ENSP00000501333.1:n.3265C=
ENST00000316623.9:c.8099C=	ENSP00000325527.5:p.Pro2700=
ENST00000559133.5:c.3468C=
ENST00000561429.1:n.354C=
NM_000138.4:c.8099C= , LRG_778t1:c.8099C=	NP_000129.3:p.Pro2700=
NM_000138.5:c.8099C= MANE Select	NP_000129.3:p.Pro2700=