Canonical Allele Identifier: CA2175492851

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445493A= , CM000677.2:g.48445493A=	GRCh38
NC_000015.9:g.48737690A= , CM000677.1:g.48737690A=	GRCh37
NC_000015.8:g.46524982A=	NCBI36
NG_008805.2:g.205296T= , LRG_778:g.205296T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5800T=	ENSP00000453958.2:p.Cys1934=
ENST00000674301.2:c.5800T=	ENSP00000501333.2:p.Cys1934=
ENST00000684448.1:n.4474T=
ENST00000316623.10:c.5800T= MANE Select	ENSP00000325527.5:p.Cys1934=
ENST00000674301.1:c.799T=	ENSP00000501333.1:p.Cys267=
ENST00000316623.9:c.5800T=	ENSP00000325527.5:p.Cys1934=
ENST00000537463.6:c.*1563T=	ENSP00000440294.2:n.*1563T=
ENST00000559133.5:c.1107T=
NM_000138.4:c.5800T= , LRG_778t1:c.5800T=	NP_000129.3:p.Cys1934=
NM_000138.5:c.5800T= MANE Select	NP_000129.3:p.Cys1934=