Canonical Allele Identifier: CA2175486473

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411200G= , CM000677.2:g.48411200G=	GRCh38
NC_000015.9:g.48703397G= , CM000677.1:g.48703397G=	GRCh37
NC_000015.8:g.46490689G=	NCBI36
NG_008805.2:g.239589C= , LRG_778:g.239589C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1214C=	ENSP00000453958.2:n.*1214C=
ENST00000674301.2:c.*1919C=	ENSP00000501333.2:n.*1919C=
ENST00000682158.1:n.1787C=
ENST00000682170.1:n.2587C=
ENST00000682767.1:n.1703C=
ENST00000316623.10:c.8406C= MANE Select	ENSP00000325527.5:p.Gly2802=
ENST00000674301.1:c.3572C=	ENSP00000501333.1:n.3572C=
ENST00000316623.9:c.8406C=	ENSP00000325527.5:p.Gly2802=
ENST00000559133.5:c.3775C=
NM_000138.4:c.8406C= , LRG_778t1:c.8406C=	NP_000129.3:p.Gly2802=
NM_000138.5:c.8406C= MANE Select	NP_000129.3:p.Gly2802=