Canonical Allele Identifier: CA2175486620

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411267A= , CM000677.2:g.48411267A=	GRCh38
NC_000015.9:g.48703464A= , CM000677.1:g.48703464A=	GRCh37
NC_000015.8:g.46490756A=	NCBI36
NG_008805.2:g.239522T= , LRG_778:g.239522T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1147T=	ENSP00000453958.2:n.*1147T=
ENST00000674301.2:c.*1852T=	ENSP00000501333.2:n.*1852T=
ENST00000682158.1:n.1720T=
ENST00000682170.1:n.2520T=
ENST00000682767.1:n.1636T=
ENST00000316623.10:c.8339T= MANE Select	ENSP00000325527.5:p.Leu2780=
ENST00000674301.1:c.3505T=	ENSP00000501333.1:n.3505T=
ENST00000316623.9:c.8339T=	ENSP00000325527.5:p.Leu2780=
ENST00000559133.5:c.3708T=
ENST00000561429.1:n.594T=
NM_000138.4:c.8339T= , LRG_778t1:c.8339T=	NP_000129.3:p.Leu2780=
NM_000138.5:c.8339T= MANE Select	NP_000129.3:p.Leu2780=