Canonical Allele Identifier: CA2175486752

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411331C= , CM000677.2:g.48411331C=	GRCh38
NC_000015.9:g.48703528C= , CM000677.1:g.48703528C=	GRCh37
NC_000015.8:g.46490820C=	NCBI36
NG_008805.2:g.239458G= , LRG_778:g.239458G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.8275G= MANE Select	NP_000129.3:p.Glu2759=
ENST00000316623.10:c.8275G= MANE Select	ENSP00000325527.5:p.Glu2759=
NM_000138.4:c.8275G= , LRG_778t1:c.8275G=	NP_000129.3:p.Glu2759=
ENST00000316623.9:c.8275G=	ENSP00000325527.5:p.Glu2759=
ENST00000559133.5:c.3644G=
ENST00000559133.6:c.*1083G=	ENSP00000453958.2:n.*1083G=
ENST00000561429.1:n.530G=
ENST00000674301.1:c.3441G=	ENSP00000501333.1:n.3441G=
ENST00000674301.2:c.*1788G=	ENSP00000501333.2:n.*1788G=
ENST00000682158.1:n.1656G=
ENST00000682170.1:n.2456G=
ENST00000682767.1:n.1572G=