Canonical Allele Identifier: CA2175487954

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412588G= , CM000677.2:g.48412588G=	GRCh38
NC_000015.9:g.48704785G= , CM000677.1:g.48704785G=	GRCh37
NC_000015.8:g.46492077G=	NCBI36
NG_008805.2:g.238201C= , LRG_778:g.238201C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1015C=	ENSP00000453958.2:n.*1015C=
ENST00000674301.2:c.*1720C=	ENSP00000501333.2:n.*1720C=
ENST00000682158.1:n.1588C=
ENST00000682170.1:n.2388C=
ENST00000682767.1:n.1504C=
ENST00000316623.10:c.8207C= MANE Select	ENSP00000325527.5:p.Thr2736=
ENST00000674301.1:c.3373C=	ENSP00000501333.1:n.3373C=
ENST00000316623.9:c.8207C=	ENSP00000325527.5:p.Thr2736=
ENST00000559133.5:c.3576C=
ENST00000561429.1:n.462C=
NM_000138.4:c.8207C= , LRG_778t1:c.8207C=	NP_000129.3:p.Thr2736=
NM_000138.5:c.8207C= MANE Select	NP_000129.3:p.Thr2736=