Canonical Allele Identifier: CA2175492487

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425446C= , CM000677.2:g.48425446C=	GRCh38
NC_000015.9:g.48717643C= , CM000677.1:g.48717643C=	GRCh37
NC_000015.8:g.46504935C=	NCBI36
NG_008805.2:g.225343G= , LRG_778:g.225343G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*184G=	ENSP00000453958.2:n.*184G=
ENST00000674301.2:c.*889G=	ENSP00000501333.2:n.*889G=
ENST00000682170.1:n.1557G=
ENST00000682767.1:n.673G=
ENST00000316623.10:c.7376G= MANE Select	ENSP00000325527.5:p.Cys2459=
ENST00000674301.1:c.2542G=	ENSP00000501333.1:n.2542G=
ENST00000316623.9:c.7376G=	ENSP00000325527.5:p.Cys2459=
ENST00000559133.5:c.2745G=
NM_000138.4:c.7376G= , LRG_778t1:c.7376G=	NP_000129.3:p.Cys2459=
NM_000138.5:c.7376G= MANE Select	NP_000129.3:p.Cys2459=