Canonical Allele Identifier: CA2175492856

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445494T= , CM000677.2:g.48445494T=	GRCh38
NC_000015.9:g.48737691T= , CM000677.1:g.48737691T=	GRCh37
NC_000015.8:g.46524983T=	NCBI36
NG_008805.2:g.205295A= , LRG_778:g.205295A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5799A=	ENSP00000453958.2:p.Glu1933=
ENST00000674301.2:c.5799A=	ENSP00000501333.2:p.Glu1933=
ENST00000684448.1:n.4473A=
ENST00000316623.10:c.5799A= MANE Select	ENSP00000325527.5:p.Glu1933=
ENST00000674301.1:c.798A=	ENSP00000501333.1:p.Glu266=
ENST00000316623.9:c.5799A=	ENSP00000325527.5:p.Glu1933=
ENST00000537463.6:c.*1562A=	ENSP00000440294.2:n.*1562A=
ENST00000559133.5:c.1106A=
NM_000138.4:c.5799A= , LRG_778t1:c.5799A=	NP_000129.3:p.Glu1933=
NM_000138.5:c.5799A= MANE Select	NP_000129.3:p.Glu1933=