Canonical Allele Identifier: CA392325923

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421996C>T , CM000677.2:g.48421996C>T	GRCh38
NC_000015.9:g.48714193C>T , CM000677.1:g.48714193C>T	GRCh37
NC_000015.8:g.46501485C>T	NCBI36
NG_008805.2:g.228793G>A , LRG_778:g.228793G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7526G>A MANE Select	NP_000129.3:p.Cys2509Tyr
ENST00000316623.10:c.7526G>A MANE Select	ENSP00000325527.5:p.Cys2509Tyr
NM_000138.4:c.7526G>A , LRG_778t1:c.7526G>A	NP_000129.3:p.Cys2509Tyr
ENST00000316623.9:c.7526G>A	ENSP00000325527.5:p.Cys2509Tyr
ENST00000559133.5:c.2895G>A
ENST00000559133.6:c.*334G>A	ENSP00000453958.2:n.*334G>A
ENST00000674301.1:c.2692G>A	ENSP00000501333.1:n.2692G>A
ENST00000674301.2:c.*1039G>A	ENSP00000501333.2:n.*1039G>A
ENST00000682170.1:n.1707G>A
ENST00000682767.1:n.823G>A