Canonical Allele Identifier: CA490015498

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48420760C>T , CM000677.2:g.48420760C>T	GRCh38
NC_000015.9:g.48712957C>T , CM000677.1:g.48712957C>T	GRCh37
NC_000015.8:g.46500249C>T	NCBI36
NG_008805.2:g.230029G>A , LRG_778:g.230029G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7746G>A MANE Select	NP_000129.3:p.Gln2582=
ENST00000316623.10:c.7746G>A MANE Select	ENSP00000325527.5:p.Gln2582=
NM_000138.4:c.7746G>A , LRG_778t1:c.7746G>A	NP_000129.3:p.Gln2582=
ENST00000316623.9:c.7746G>A	ENSP00000325527.5:p.Gln2582=
ENST00000559133.5:c.3115G>A
ENST00000559133.6:c.*554G>A	ENSP00000453958.2:n.*554G>A
ENST00000674301.1:c.2912G>A	ENSP00000501333.1:n.2912G>A
ENST00000674301.2:c.*1259G>A	ENSP00000501333.2:n.*1259G>A
ENST00000682170.1:n.1927G>A
ENST00000682767.1:n.1043G>A