Canonical Allele Identifier: CA2175486117

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411051T= , CM000677.2:g.48411051T=	GRCh38
NC_000015.9:g.48703248T= , CM000677.1:g.48703248T=	GRCh37
NC_000015.8:g.46490540T=	NCBI36
NG_008805.2:g.239738A= , LRG_778:g.239738A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1363A=	ENSP00000453958.2:n.*1363A=
ENST00000682158.1:n.1936A=
ENST00000682170.1:n.2736A=
ENST00000682767.1:n.1852A=
ENST00000316623.10:c.8555A= MANE Select	ENSP00000325527.5:p.Asp2852=
ENST00000316623.9:c.8555A=	ENSP00000325527.5:p.Asp2852=
ENST00000559133.5:c.3924A=
NM_000138.4:c.8555A= , LRG_778t1:c.8555A=	NP_000129.3:p.Asp2852=
NM_000138.5:c.8555A= MANE Select	NP_000129.3:p.Asp2852=