Canonical Allele Identifier: CA2175486145

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411065G= , CM000677.2:g.48411065G=	GRCh38
NC_000015.9:g.48703262G= , CM000677.1:g.48703262G=	GRCh37
NC_000015.8:g.46490554G=	NCBI36
NG_008805.2:g.239724C= , LRG_778:g.239724C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1349C=	ENSP00000453958.2:n.*1349C=
ENST00000682158.1:n.1922C=
ENST00000682170.1:n.2722C=
ENST00000682767.1:n.1838C=
ENST00000316623.10:c.8541C= MANE Select	ENSP00000325527.5:p.Asp2847=
ENST00000316623.9:c.8541C=	ENSP00000325527.5:p.Asp2847=
ENST00000559133.5:c.3910C=
NM_000138.4:c.8541C= , LRG_778t1:c.8541C=	NP_000129.3:p.Asp2847=
NM_000138.5:c.8541C= MANE Select	NP_000129.3:p.Asp2847=