Canonical Allele Identifier: CA2175487937

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412583C= , CM000677.2:g.48412583C=	GRCh38
NC_000015.9:g.48704780C= , CM000677.1:g.48704780C=	GRCh37
NC_000015.8:g.46492072C=	NCBI36
NG_008805.2:g.238206G= , LRG_778:g.238206G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1020G=	ENSP00000453958.2:n.*1020G=
ENST00000674301.2:c.*1725G=	ENSP00000501333.2:n.*1725G=
ENST00000682158.1:n.1593G=
ENST00000682170.1:n.2393G=
ENST00000682767.1:n.1509G=
ENST00000316623.10:c.8212G= MANE Select	ENSP00000325527.5:p.Ala2738=
ENST00000674301.1:c.3378G=	ENSP00000501333.1:n.3378G=
ENST00000316623.9:c.8212G=	ENSP00000325527.5:p.Ala2738=
ENST00000559133.5:c.3581G=
ENST00000561429.1:n.467G=
NM_000138.4:c.8212G= , LRG_778t1:c.8212G=	NP_000129.3:p.Ala2738=
NM_000138.5:c.8212G= MANE Select	NP_000129.3:p.Ala2738=