Canonical Allele Identifier: CA392323061

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415650C>T , CM000677.2:g.48415650C>T	GRCh38
NC_000015.9:g.48707847C>T , CM000677.1:g.48707847C>T	GRCh37
NC_000015.8:g.46495139C>T	NCBI36
NG_008805.2:g.235139G>A , LRG_778:g.235139G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7937G>A MANE Select	NP_000129.3:p.Cys2646Tyr
ENST00000316623.10:c.7937G>A MANE Select	ENSP00000325527.5:p.Cys2646Tyr
NM_000138.4:c.7937G>A , LRG_778t1:c.7937G>A	NP_000129.3:p.Cys2646Tyr
ENST00000316623.9:c.7937G>A	ENSP00000325527.5:p.Cys2646Tyr
ENST00000559133.5:c.3306G>A
ENST00000559133.6:c.*745G>A	ENSP00000453958.2:n.*745G>A
ENST00000561429.1:n.192G>A
ENST00000674301.1:c.3103G>A	ENSP00000501333.1:n.3103G>A
ENST00000674301.2:c.*1450G>A	ENSP00000501333.2:n.*1450G>A
ENST00000682158.1:n.1318G>A
ENST00000682170.1:n.2118G>A
ENST00000682767.1:n.1234G>A