Canonical Allele Identifier: CA2175486288

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411118G= , CM000677.2:g.48411118G=	GRCh38
NC_000015.9:g.48703315G= , CM000677.1:g.48703315G=	GRCh37
NC_000015.8:g.46490607G=	NCBI36
NG_008805.2:g.239671C= , LRG_778:g.239671C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1296C=	ENSP00000453958.2:n.*1296C=
ENST00000674301.2:c.*2001C=	ENSP00000501333.2:n.*2001C=
ENST00000682158.1:n.1869C=
ENST00000682170.1:n.2669C=
ENST00000682767.1:n.1785C=
ENST00000316623.10:c.8488C= MANE Select	ENSP00000325527.5:p.Gln2830=
ENST00000674301.1:c.3654C=	ENSP00000501333.1:n.3654C=
ENST00000316623.9:c.8488C=	ENSP00000325527.5:p.Gln2830=
ENST00000559133.5:c.3857C=
NM_000138.4:c.8488C= , LRG_778t1:c.8488C=	NP_000129.3:p.Gln2830=
NM_000138.5:c.8488C= MANE Select	NP_000129.3:p.Gln2830=