Canonical Allele Identifier: CA2175498161

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428395A= , CM000677.2:g.48428395A=	GRCh38
NC_000015.9:g.48720592A= , CM000677.1:g.48720592A=	GRCh37
NC_000015.8:g.46507884A=	NCBI36
NG_008805.2:g.222394T= , LRG_778:g.222394T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6948T= MANE Select	NP_000129.3:p.Cys2316=
ENST00000316623.10:c.6948T= MANE Select	ENSP00000325527.5:p.Cys2316=
NM_000138.4:c.6948T= , LRG_778t1:c.6948T=	NP_000129.3:p.Cys2316=
ENST00000316623.9:c.6948T=	ENSP00000325527.5:p.Cys2316=
ENST00000559133.5:c.2255T=
ENST00000559133.6:c.6948T=	ENSP00000453958.2:p.Cys2316=
ENST00000560720.1:n.235T=
ENST00000674301.1:c.2052T=	ENSP00000501333.1:n.2052T=
ENST00000674301.2:c.*399T=	ENSP00000501333.2:n.*399T=
ENST00000682170.1:n.557T=
ENST00000682767.1:n.183T=