Canonical Allele Identifier: CA2175486355

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411142G= , CM000677.2:g.48411142G=	GRCh38
NC_000015.9:g.48703339G= , CM000677.1:g.48703339G=	GRCh37
NC_000015.8:g.46490631G=	NCBI36
NG_008805.2:g.239647C= , LRG_778:g.239647C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1272C=	ENSP00000453958.2:n.*1272C=
ENST00000674301.2:c.*1977C=	ENSP00000501333.2:n.*1977C=
ENST00000682158.1:n.1845C=
ENST00000682170.1:n.2645C=
ENST00000682767.1:n.1761C=
ENST00000316623.10:c.8464C= MANE Select	ENSP00000325527.5:p.Pro2822=
ENST00000674301.1:c.3630C=	ENSP00000501333.1:n.3630C=
ENST00000316623.9:c.8464C=	ENSP00000325527.5:p.Pro2822=
ENST00000559133.5:c.3833C=
NM_000138.4:c.8464C= , LRG_778t1:c.8464C=	NP_000129.3:p.Pro2822=
NM_000138.5:c.8464C= MANE Select	NP_000129.3:p.Pro2822=