Canonical Allele Identifier: CA2175486777

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411345G= , CM000677.2:g.48411345G=	GRCh38
NC_000015.9:g.48703542G= , CM000677.1:g.48703542G=	GRCh37
NC_000015.8:g.46490834G=	NCBI36
NG_008805.2:g.239444C= , LRG_778:g.239444C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1069C=	ENSP00000453958.2:n.*1069C=
ENST00000674301.2:c.*1774C=	ENSP00000501333.2:n.*1774C=
ENST00000682158.1:n.1642C=
ENST00000682170.1:n.2442C=
ENST00000682767.1:n.1558C=
ENST00000316623.10:c.8261C= MANE Select	ENSP00000325527.5:p.Ala2754=
ENST00000674301.1:c.3427C=	ENSP00000501333.1:n.3427C=
ENST00000316623.9:c.8261C=	ENSP00000325527.5:p.Ala2754=
ENST00000559133.5:c.3630C=
ENST00000561429.1:n.516C=
NM_000138.4:c.8261C= , LRG_778t1:c.8261C=	NP_000129.3:p.Ala2754=
NM_000138.5:c.8261C= MANE Select	NP_000129.3:p.Ala2754=