Canonical Allele Identifier: CA2175498492

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48448860C= , CM000677.2:g.48448860C=	GRCh38
NC_000015.9:g.48741057C= , CM000677.1:g.48741057C=	GRCh37
NC_000015.8:g.46528349C=	NCBI36
NG_008805.2:g.201929G= , LRG_778:g.201929G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5579G=	ENSP00000453958.2:p.Cys1860=
ENST00000674301.2:c.5579G=	ENSP00000501333.2:p.Cys1860=
ENST00000684448.1:n.4253G=
ENST00000316623.10:c.5579G= MANE Select	ENSP00000325527.5:p.Cys1860=
ENST00000674301.1:c.578G=	ENSP00000501333.1:p.Cys193=
ENST00000316623.9:c.5579G=	ENSP00000325527.5:p.Cys1860=
ENST00000537463.6:c.*1342G=	ENSP00000440294.2:n.*1342G=
ENST00000559133.5:c.886G=
NM_000138.4:c.5579G= , LRG_778t1:c.5579G=	NP_000129.3:p.Cys1860=
NM_000138.5:c.5579G= MANE Select	NP_000129.3:p.Cys1860=