Canonical Allele Identifier: CA2175464761

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422067A= , CM000677.2:g.48422067A=	GRCh38
NC_000015.9:g.48714264A= , CM000677.1:g.48714264A=	GRCh37
NC_000015.8:g.46501556A=	NCBI36
NG_008805.2:g.228722T= , LRG_778:g.228722T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*263T=	ENSP00000453958.2:n.*263T=
ENST00000674301.2:c.*968T=	ENSP00000501333.2:n.*968T=
ENST00000682170.1:n.1636T=
ENST00000682767.1:n.752T=
ENST00000316623.10:c.7455T= MANE Select	ENSP00000325527.5:p.Asp2485=
ENST00000674301.1:c.2621T=	ENSP00000501333.1:n.2621T=
ENST00000316623.9:c.7455T=	ENSP00000325527.5:p.Asp2485=
ENST00000559133.5:c.2824T=
NM_000138.4:c.7455T= , LRG_778t1:c.7455T=	NP_000129.3:p.Asp2485=
NM_000138.5:c.7455T= MANE Select	NP_000129.3:p.Asp2485=