Canonical Allele Identifier: CA2175488076

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412735A= , CM000677.2:g.48412735A=	GRCh38
NC_000015.9:g.48704932A= , CM000677.1:g.48704932A=	GRCh37
NC_000015.8:g.46492224A=	NCBI36
NG_008805.2:g.238054T= , LRG_778:g.238054T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*868T=	ENSP00000453958.2:n.*868T=
ENST00000674301.2:c.*1573T=	ENSP00000501333.2:n.*1573T=
ENST00000682158.1:n.1441T=
ENST00000682170.1:n.2241T=
ENST00000682767.1:n.1357T=
ENST00000316623.10:c.8060T= MANE Select	ENSP00000325527.5:p.Val2687=
ENST00000674301.1:c.3226T=	ENSP00000501333.1:n.3226T=
ENST00000316623.9:c.8060T=	ENSP00000325527.5:p.Val2687=
ENST00000559133.5:c.3429T=
ENST00000561429.1:n.315T=
NM_000138.4:c.8060T= , LRG_778t1:c.8060T=	NP_000129.3:p.Val2687=
NM_000138.5:c.8060T= MANE Select	NP_000129.3:p.Val2687=