Canonical Allele Identifier: CA2175489340

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415567A= , CM000677.2:g.48415567A=	GRCh38
NC_000015.9:g.48707764A= , CM000677.1:g.48707764A=	GRCh37
NC_000015.8:g.46495056A=	NCBI36
NG_008805.2:g.235222T= , LRG_778:g.235222T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*828T=	ENSP00000453958.2:n.*828T=
ENST00000674301.2:c.*1533T=	ENSP00000501333.2:n.*1533T=
ENST00000682158.1:n.1401T=
ENST00000682170.1:n.2201T=
ENST00000682767.1:n.1317T=
ENST00000316623.10:c.8020T= MANE Select	ENSP00000325527.5:p.Cys2674=
ENST00000674301.1:c.3186T=	ENSP00000501333.1:n.3186T=
ENST00000316623.9:c.8020T=	ENSP00000325527.5:p.Cys2674=
ENST00000559133.5:c.3389T=
ENST00000561429.1:n.275T=
NM_000138.4:c.8020T= , LRG_778t1:c.8020T=	NP_000129.3:p.Cys2674=
NM_000138.5:c.8020T= MANE Select	NP_000129.3:p.Cys2674=