Canonical Allele Identifier: CA2175486373

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411153G= , CM000677.2:g.48411153G=	GRCh38
NC_000015.9:g.48703350G= , CM000677.1:g.48703350G=	GRCh37
NC_000015.8:g.46490642G=	NCBI36
NG_008805.2:g.239636C= , LRG_778:g.239636C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1261C=	ENSP00000453958.2:n.*1261C=
ENST00000674301.2:c.*1966C=	ENSP00000501333.2:n.*1966C=
ENST00000682158.1:n.1834C=
ENST00000682170.1:n.2634C=
ENST00000682767.1:n.1750C=
ENST00000316623.10:c.8453C= MANE Select	ENSP00000325527.5:p.Thr2818=
ENST00000674301.1:c.3619C=	ENSP00000501333.1:n.3619C=
ENST00000316623.9:c.8453C=	ENSP00000325527.5:p.Thr2818=
ENST00000559133.5:c.3822C=
NM_000138.4:c.8453C= , LRG_778t1:c.8453C=	NP_000129.3:p.Thr2818=
NM_000138.5:c.8453C= MANE Select	NP_000129.3:p.Thr2818=