Canonical Allele Identifier: CA2175488072

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412727T= , CM000677.2:g.48412727T=	GRCh38
NC_000015.9:g.48704924T= , CM000677.1:g.48704924T=	GRCh37
NC_000015.8:g.46492216T=	NCBI36
NG_008805.2:g.238062A= , LRG_778:g.238062A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*876A=	ENSP00000453958.2:n.*876A=
ENST00000674301.2:c.*1581A=	ENSP00000501333.2:n.*1581A=
ENST00000682158.1:n.1449A=
ENST00000682170.1:n.2249A=
ENST00000682767.1:n.1365A=
ENST00000316623.10:c.8068A= MANE Select	ENSP00000325527.5:p.Met2690=
ENST00000674301.1:c.3234A=	ENSP00000501333.1:n.3234A=
ENST00000316623.9:c.8068A=	ENSP00000325527.5:p.Met2690=
ENST00000559133.5:c.3437A=
ENST00000561429.1:n.323A=
NM_000138.4:c.8068A= , LRG_778t1:c.8068A=	NP_000129.3:p.Met2690=
NM_000138.5:c.8068A= MANE Select	NP_000129.3:p.Met2690=