Canonical Allele Identifier: CA392328785

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425832A>T , CM000677.2:g.48425832A>T	GRCh38
NC_000015.9:g.48718029A>T , CM000677.1:g.48718029A>T	GRCh37
NC_000015.8:g.46505321A>T	NCBI36
NG_008805.2:g.224957T>A , LRG_778:g.224957T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7237T>A MANE Select	NP_000129.3:p.Cys2413Ser
ENST00000316623.10:c.7237T>A MANE Select	ENSP00000325527.5:p.Cys2413Ser
NM_000138.4:c.7237T>A , LRG_778t1:c.7237T>A	NP_000129.3:p.Cys2413Ser
ENST00000316623.9:c.7237T>A	ENSP00000325527.5:p.Cys2413Ser
ENST00000559133.5:c.2606T>A
ENST00000559133.6:c.*45T>A	ENSP00000453958.2:n.*45T>A
ENST00000674301.1:c.2403T>A	ENSP00000501333.1:n.2403T>A
ENST00000674301.2:c.*750T>A	ENSP00000501333.2:n.*750T>A
ENST00000682170.1:n.1418T>A
ENST00000682767.1:n.534T>A