Canonical Allele Identifier: CA2175498485

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428471T= , CM000677.2:g.48428471T=	GRCh38
NC_000015.9:g.48720668T= , CM000677.1:g.48720668T=	GRCh37
NC_000015.8:g.46507960T=	NCBI36
NG_008805.2:g.222318A= , LRG_778:g.222318A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6872A=	ENSP00000453958.2:p.Asp2291=
ENST00000674301.2:c.*323A=	ENSP00000501333.2:n.*323A=
ENST00000682170.1:n.481A=
ENST00000682767.1:n.107A=
ENST00000316623.10:c.6872A= MANE Select	ENSP00000325527.5:p.Asp2291=
ENST00000674301.1:c.1976A=	ENSP00000501333.1:n.1976A=
ENST00000316623.9:c.6872A=	ENSP00000325527.5:p.Asp2291=
ENST00000559133.5:c.2179A=
ENST00000560720.1:n.159A=
NM_000138.4:c.6872A= , LRG_778t1:c.6872A=	NP_000129.3:p.Asp2291=
NM_000138.5:c.6872A= MANE Select	NP_000129.3:p.Asp2291=