Canonical Allele Identifier: CA2175486160

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411073G= , CM000677.2:g.48411073G=	GRCh38
NC_000015.9:g.48703270G= , CM000677.1:g.48703270G=	GRCh37
NC_000015.8:g.46490562G=	NCBI36
NG_008805.2:g.239716C= , LRG_778:g.239716C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1341C=	ENSP00000453958.2:n.*1341C=
ENST00000682158.1:n.1914C=
ENST00000682170.1:n.2714C=
ENST00000682767.1:n.1830C=
ENST00000316623.10:c.8533C= MANE Select	ENSP00000325527.5:p.Leu2845=
ENST00000316623.9:c.8533C=	ENSP00000325527.5:p.Leu2845=
ENST00000559133.5:c.3902C=
NM_000138.4:c.8533C= , LRG_778t1:c.8533C=	NP_000129.3:p.Leu2845=
NM_000138.5:c.8533C= MANE Select	NP_000129.3:p.Leu2845=