Canonical Allele Identifier: CA2175489355

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415585C= , CM000677.2:g.48415585C=	GRCh38
NC_000015.9:g.48707782C= , CM000677.1:g.48707782C=	GRCh37
NC_000015.8:g.46495074C=	NCBI36
NG_008805.2:g.235204G= , LRG_778:g.235204G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.8002G= MANE Select	NP_000129.3:p.Gly2668=
ENST00000316623.10:c.8002G= MANE Select	ENSP00000325527.5:p.Gly2668=
NM_000138.4:c.8002G= , LRG_778t1:c.8002G=	NP_000129.3:p.Gly2668=
ENST00000316623.9:c.8002G=	ENSP00000325527.5:p.Gly2668=
ENST00000559133.5:c.3371G=
ENST00000559133.6:c.*810G=	ENSP00000453958.2:n.*810G=
ENST00000561429.1:n.257G=
ENST00000674301.1:c.3168G=	ENSP00000501333.1:n.3168G=
ENST00000674301.2:c.*1515G=	ENSP00000501333.2:n.*1515G=
ENST00000682158.1:n.1383G=
ENST00000682170.1:n.2183G=
ENST00000682767.1:n.1299G=