Canonical Allele Identifier: CA059118

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48420779C>T , CM000677.2:g.48420779C>T	GRCh38
NC_000015.9:g.48712976C>T , CM000677.1:g.48712976C>T	GRCh37
NC_000015.8:g.46500268C>T	NCBI36
NG_008805.2:g.230010G>A , LRG_778:g.230010G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7727G>A MANE Select	NP_000129.3:p.Arg2576His
ENST00000316623.10:c.7727G>A MANE Select	ENSP00000325527.5:p.Arg2576His
NM_000138.4:c.7727G>A , LRG_778t1:c.7727G>A	NP_000129.3:p.Arg2576His
ENST00000316623.9:c.7727G>A	ENSP00000325527.5:p.Arg2576His
ENST00000559133.5:c.3096G>A
ENST00000559133.6:c.*535G>A	ENSP00000453958.2:n.*535G>A
ENST00000674301.1:c.2893G>A	ENSP00000501333.1:n.2893G>A
ENST00000674301.2:c.*1240G>A	ENSP00000501333.2:n.*1240G>A
ENST00000682170.1:n.1908G>A
ENST00000682767.1:n.1024G>A