Canonical Allele Identifier: CA2175498440

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428458A= , CM000677.2:g.48428458A=	GRCh38
NC_000015.9:g.48720655A= , CM000677.1:g.48720655A=	GRCh37
NC_000015.8:g.46507947A=	NCBI36
NG_008805.2:g.222331T= , LRG_778:g.222331T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6885T=	ENSP00000453958.2:p.Cys2295=
ENST00000674301.2:c.*336T=	ENSP00000501333.2:n.*336T=
ENST00000682170.1:n.494T=
ENST00000682767.1:n.120T=
ENST00000316623.10:c.6885T= MANE Select	ENSP00000325527.5:p.Cys2295=
ENST00000674301.1:c.1989T=	ENSP00000501333.1:n.1989T=
ENST00000316623.9:c.6885T=	ENSP00000325527.5:p.Cys2295=
ENST00000559133.5:c.2192T=
ENST00000560720.1:n.172T=
NM_000138.4:c.6885T= , LRG_778t1:c.6885T=	NP_000129.3:p.Cys2295=
NM_000138.5:c.6885T= MANE Select	NP_000129.3:p.Cys2295=