Canonical Allele Identifier: CA392323446

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415758T>A , CM000677.2:g.48415758T>A	GRCh38
NC_000015.9:g.48707955T>A , CM000677.1:g.48707955T>A	GRCh37
NC_000015.8:g.46495247T>A	NCBI36
NG_008805.2:g.235031A>T , LRG_778:g.235031A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7829A>T MANE Select	NP_000129.3:p.Glu2610Val
ENST00000316623.10:c.7829A>T MANE Select	ENSP00000325527.5:p.Glu2610Val
NM_000138.4:c.7829A>T , LRG_778t1:c.7829A>T	NP_000129.3:p.Glu2610Val
ENST00000316623.9:c.7829A>T	ENSP00000325527.5:p.Glu2610Val
ENST00000559133.5:c.3198A>T
ENST00000559133.6:c.*637A>T	ENSP00000453958.2:n.*637A>T
ENST00000561429.1:n.84A>T
ENST00000674301.1:c.2995A>T	ENSP00000501333.1:n.2995A>T
ENST00000674301.2:c.*1342A>T	ENSP00000501333.2:n.*1342A>T
ENST00000682158.1:n.1210A>T
ENST00000682170.1:n.2010A>T
ENST00000682767.1:n.1126A>T