Canonical Allele Identifier: CA2175498472

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428462T= , CM000677.2:g.48428462T=	GRCh38
NC_000015.9:g.48720659T= , CM000677.1:g.48720659T=	GRCh37
NC_000015.8:g.46507951T=	NCBI36
NG_008805.2:g.222327A= , LRG_778:g.222327A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6881A=	ENSP00000453958.2:p.Glu2294=
ENST00000674301.2:c.*332A=	ENSP00000501333.2:n.*332A=
ENST00000682170.1:n.490A=
ENST00000682767.1:n.116A=
ENST00000316623.10:c.6881A= MANE Select	ENSP00000325527.5:p.Glu2294=
ENST00000674301.1:c.1985A=	ENSP00000501333.1:n.1985A=
ENST00000316623.9:c.6881A=	ENSP00000325527.5:p.Glu2294=
ENST00000559133.5:c.2188A=
ENST00000560720.1:n.168A=
NM_000138.4:c.6881A= , LRG_778t1:c.6881A=	NP_000129.3:p.Glu2294=
NM_000138.5:c.6881A= MANE Select	NP_000129.3:p.Glu2294=