Canonical Allele Identifier: CA2175486089

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410998G= , CM000677.2:g.48410998G=	GRCh38
NC_000015.9:g.48703195G= , CM000677.1:g.48703195G=	GRCh37
NC_000015.8:g.46490487G=	NCBI36
NG_008805.2:g.239791C= , LRG_778:g.239791C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1416C=	ENSP00000453958.2:n.*1416C=
ENST00000682158.1:n.1989C=
ENST00000682170.1:n.2789C=
ENST00000682767.1:n.1905C=
ENST00000316623.10:c.8608C= MANE Select	ENSP00000325527.5:p.Leu2870=
ENST00000316623.9:c.8608C=	ENSP00000325527.5:p.Leu2870=
ENST00000559133.5:c.3977C=
NM_000138.4:c.8608C= , LRG_778t1:c.8608C=	NP_000129.3:p.Leu2870=
NM_000138.5:c.8608C= MANE Select	NP_000129.3:p.Leu2870=