Canonical Allele Identifier: CA2175486737

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411319T= , CM000677.2:g.48411319T=	GRCh38
NC_000015.9:g.48703516T= , CM000677.1:g.48703516T=	GRCh37
NC_000015.8:g.46490808T=	NCBI36
NG_008805.2:g.239470A= , LRG_778:g.239470A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1095A=	ENSP00000453958.2:n.*1095A=
ENST00000674301.2:c.*1800A=	ENSP00000501333.2:n.*1800A=
ENST00000682158.1:n.1668A=
ENST00000682170.1:n.2468A=
ENST00000682767.1:n.1584A=
ENST00000316623.10:c.8287A= MANE Select	ENSP00000325527.5:p.Ile2763=
ENST00000674301.1:c.3453A=	ENSP00000501333.1:n.3453A=
ENST00000316623.9:c.8287A=	ENSP00000325527.5:p.Ile2763=
ENST00000559133.5:c.3656A=
ENST00000561429.1:n.542A=
NM_000138.4:c.8287A= , LRG_778t1:c.8287A=	NP_000129.3:p.Ile2763=
NM_000138.5:c.8287A= MANE Select	NP_000129.3:p.Ile2763=