Canonical Allele Identifier: CA2175486809

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411359G= , CM000677.2:g.48411359G=	GRCh38
NC_000015.9:g.48703556G= , CM000677.1:g.48703556G=	GRCh37
NC_000015.8:g.46490848G=	NCBI36
NG_008805.2:g.239430C= , LRG_778:g.239430C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*1055C=	ENSP00000453958.2:n.*1055C=
ENST00000674301.2:c.*1760C=	ENSP00000501333.2:n.*1760C=
ENST00000682158.1:n.1628C=
ENST00000682170.1:n.2428C=
ENST00000682767.1:n.1544C=
ENST00000316623.10:c.8247C= MANE Select	ENSP00000325527.5:p.Ala2749=
ENST00000674301.1:c.3413C=	ENSP00000501333.1:n.3413C=
ENST00000316623.9:c.8247C=	ENSP00000325527.5:p.Ala2749=
ENST00000559133.5:c.3616C=
ENST00000561429.1:n.502C=
NM_000138.4:c.8247C= , LRG_778t1:c.8247C=	NP_000129.3:p.Ala2749=
NM_000138.5:c.8247C= MANE Select	NP_000129.3:p.Ala2749=