Canonical Allele Identifier: CA2175464289

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421956G= , CM000677.2:g.48421956G=	GRCh38
NC_000015.9:g.48714153G= , CM000677.1:g.48714153G=	GRCh37
NC_000015.8:g.46501445G=	NCBI36
NG_008805.2:g.228833C= , LRG_778:g.228833C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*374C=	ENSP00000453958.2:n.*374C=
ENST00000674301.2:c.*1079C=	ENSP00000501333.2:n.*1079C=
ENST00000682170.1:n.1747C=
ENST00000682767.1:n.863C=
ENST00000316623.10:c.7566C= MANE Select	ENSP00000325527.5:p.Cys2522=
ENST00000674301.1:c.2732C=	ENSP00000501333.1:n.2732C=
ENST00000316623.9:c.7566C=	ENSP00000325527.5:p.Cys2522=
ENST00000559133.5:c.2935C=
NM_000138.4:c.7566C= , LRG_778t1:c.7566C=	NP_000129.3:p.Cys2522=
NM_000138.5:c.7566C= MANE Select	NP_000129.3:p.Cys2522=