Canonical Allele Identifier: CA057916

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427672C>T , CM000677.2:g.48427672C>T	GRCh38
NC_000015.9:g.48719869C>T , CM000677.1:g.48719869C>T	GRCh37
NC_000015.8:g.46507161C>T	NCBI36
NG_008805.2:g.223117G>A , LRG_778:g.223117G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.7161G>A	ENSP00000453958.2:p.Thr2387=
ENST00000674301.2:c.*612G>A	ENSP00000501333.2:n.*612G>A
ENST00000682170.1:n.1280G>A
ENST00000682767.1:n.396G>A
ENST00000316623.10:c.7099G>A MANE Select	ENSP00000325527.5:p.Gly2367Arg
ENST00000674301.1:c.2265G>A	ENSP00000501333.1:n.2265G>A
ENST00000316623.9:c.7099G>A	ENSP00000325527.5:p.Gly2367Arg
ENST00000559133.5:c.2468G>A
NM_000138.4:c.7099G>A , LRG_778t1:c.7099G>A	NP_000129.3:p.Gly2367Arg
NM_000138.5:c.7099G>A MANE Select	NP_000129.3:p.Gly2367Arg