Canonical Allele Identifier: CA392325131

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421608C>T , CM000677.2:g.48421608C>T	GRCh38
NC_000015.9:g.48713805C>T , CM000677.1:g.48713805C>T	GRCh37
NC_000015.8:g.46501097C>T	NCBI36
NG_008805.2:g.229181G>A , LRG_778:g.229181G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7649G>A MANE Select	NP_000129.3:p.Cys2550Tyr
ENST00000316623.10:c.7649G>A MANE Select	ENSP00000325527.5:p.Cys2550Tyr
NM_000138.4:c.7649G>A , LRG_778t1:c.7649G>A	NP_000129.3:p.Cys2550Tyr
ENST00000316623.9:c.7649G>A	ENSP00000325527.5:p.Cys2550Tyr
ENST00000559133.5:c.3018G>A
ENST00000559133.6:c.*457G>A	ENSP00000453958.2:n.*457G>A
ENST00000674301.1:c.2815G>A	ENSP00000501333.1:n.2815G>A
ENST00000674301.2:c.*1162G>A	ENSP00000501333.2:n.*1162G>A
ENST00000682170.1:n.1830G>A
ENST00000682767.1:n.946G>A