Canonical Allele Identifier: CA2175488062

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412711C= , CM000677.2:g.48412711C=	GRCh38
NC_000015.9:g.48704908C= , CM000677.1:g.48704908C=	GRCh37
NC_000015.8:g.46492200C=	NCBI36
NG_008805.2:g.238078G= , LRG_778:g.238078G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*892G=	ENSP00000453958.2:n.*892G=
ENST00000674301.2:c.*1597G=	ENSP00000501333.2:n.*1597G=
ENST00000682158.1:n.1465G=
ENST00000682170.1:n.2265G=
ENST00000682767.1:n.1381G=
ENST00000316623.10:c.8084G= MANE Select	ENSP00000325527.5:p.Gly2695=
ENST00000674301.1:c.3250G=	ENSP00000501333.1:n.3250G=
ENST00000316623.9:c.8084G=	ENSP00000325527.5:p.Gly2695=
ENST00000559133.5:c.3453G=
ENST00000561429.1:n.339G=
NM_000138.4:c.8084G= , LRG_778t1:c.8084G=	NP_000129.3:p.Gly2695=
NM_000138.5:c.8084G= MANE Select	NP_000129.3:p.Gly2695=