Canonical Allele Identifier: CA2175497426

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434711T= , CM000677.2:g.48434711T=	GRCh38
NC_000015.9:g.48726908T= , CM000677.1:g.48726908T=	GRCh37
NC_000015.8:g.46514200T=	NCBI36
NG_008805.2:g.216078A= , LRG_778:g.216078A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6499A=	ENSP00000453958.2:p.Thr2167=
ENST00000674301.2:c.6499A=	ENSP00000501333.2:p.Thr2167=
ENST00000682170.1:n.108A=
ENST00000316623.10:c.6499A= MANE Select	ENSP00000325527.5:p.Thr2167=
ENST00000674301.1:c.1498A=	ENSP00000501333.1:p.Thr500=
ENST00000316623.9:c.6499A=	ENSP00000325527.5:p.Thr2167=
ENST00000537463.6:c.*2262A=	ENSP00000440294.2:n.*2262A=
ENST00000559133.5:c.1806A=
NM_000138.4:c.6499A= , LRG_778t1:c.6499A=	NP_000129.3:p.Thr2167=
NM_000138.5:c.6499A= MANE Select	NP_000129.3:p.Thr2167=