Canonical Allele Identifier: CA2175492503

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425448G= , CM000677.2:g.48425448G=	GRCh38
NC_000015.9:g.48717645G= , CM000677.1:g.48717645G=	GRCh37
NC_000015.8:g.46504937G=	NCBI36
NG_008805.2:g.225341C= , LRG_778:g.225341C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*182C=	ENSP00000453958.2:n.*182C=
ENST00000674301.2:c.*887C=	ENSP00000501333.2:n.*887C=
ENST00000682170.1:n.1555C=
ENST00000682767.1:n.671C=
ENST00000316623.10:c.7374C= MANE Select	ENSP00000325527.5:p.Ile2458=
ENST00000674301.1:c.2540C=	ENSP00000501333.1:n.2540C=
ENST00000316623.9:c.7374C=	ENSP00000325527.5:p.Ile2458=
ENST00000559133.5:c.2743C=
NM_000138.4:c.7374C= , LRG_778t1:c.7374C=	NP_000129.3:p.Ile2458=
NM_000138.5:c.7374C= MANE Select	NP_000129.3:p.Ile2458=