Canonical Allele Identifier: CA392328830

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425853A>T , CM000677.2:g.48425853A>T	GRCh38
NC_000015.9:g.48718050A>T , CM000677.1:g.48718050A>T	GRCh37
NC_000015.8:g.46505342A>T	NCBI36
NG_008805.2:g.224936T>A , LRG_778:g.224936T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7216T>A MANE Select	NP_000129.3:p.Cys2406Ser
ENST00000316623.10:c.7216T>A MANE Select	ENSP00000325527.5:p.Cys2406Ser
NM_000138.4:c.7216T>A , LRG_778t1:c.7216T>A	NP_000129.3:p.Cys2406Ser
ENST00000316623.9:c.7216T>A	ENSP00000325527.5:p.Cys2406Ser
ENST00000559133.5:c.2585T>A
ENST00000559133.6:c.*24T>A	ENSP00000453958.2:n.*24T>A
ENST00000674301.1:c.2382T>A	ENSP00000501333.1:n.2382T>A
ENST00000674301.2:c.*729T>A	ENSP00000501333.2:n.*729T>A
ENST00000682170.1:n.1397T>A
ENST00000682767.1:n.513T>A