Canonical Allele Identifier: CA2175486180

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411077G= , CM000677.2:g.48411077G=	GRCh38
NC_000015.9:g.48703274G= , CM000677.1:g.48703274G=	GRCh37
NC_000015.8:g.46490566G=	NCBI36
NG_008805.2:g.239712C= , LRG_778:g.239712C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1337C=	ENSP00000453958.2:n.*1337C=
ENST00000682158.1:n.1910C=
ENST00000682170.1:n.2710C=
ENST00000682767.1:n.1826C=
ENST00000316623.10:c.8529C= MANE Select	ENSP00000325527.5:p.Asn2843=
ENST00000316623.9:c.8529C=	ENSP00000325527.5:p.Asn2843=
ENST00000559133.5:c.3898C=
NM_000138.4:c.8529C= , LRG_778t1:c.8529C=	NP_000129.3:p.Asn2843=
NM_000138.5:c.8529C= MANE Select	NP_000129.3:p.Asn2843=