Canonical Allele Identifier: CA392329903

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427681A>T , CM000677.2:g.48427681A>T	GRCh38
NC_000015.9:g.48719878A>T , CM000677.1:g.48719878A>T	GRCh37
NC_000015.8:g.46507170A>T	NCBI36
NG_008805.2:g.223108T>A , LRG_778:g.223108T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7090T>A MANE Select	NP_000129.3:p.Cys2364Ser
ENST00000316623.10:c.7090T>A MANE Select	ENSP00000325527.5:p.Cys2364Ser
NM_000138.4:c.7090T>A , LRG_778t1:c.7090T>A	NP_000129.3:p.Cys2364Ser
ENST00000316623.9:c.7090T>A	ENSP00000325527.5:p.Cys2364Ser
ENST00000559133.5:c.2459T>A
ENST00000559133.6:c.7152T>A	ENSP00000453958.2:p.Ala2384=
ENST00000674301.1:c.2256T>A	ENSP00000501333.1:n.2256T>A
ENST00000674301.2:c.*603T>A	ENSP00000501333.2:n.*603T>A
ENST00000682170.1:n.1271T>A
ENST00000682767.1:n.387T>A