Canonical Allele Identifier: CA2175463608

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421625A= , CM000677.2:g.48421625A=	GRCh38
NC_000015.9:g.48713822A= , CM000677.1:g.48713822A=	GRCh37
NC_000015.8:g.46501114A=	NCBI36
NG_008805.2:g.229164T= , LRG_778:g.229164T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*440T=	ENSP00000453958.2:n.*440T=
ENST00000674301.2:c.*1145T=	ENSP00000501333.2:n.*1145T=
ENST00000682170.1:n.1813T=
ENST00000682767.1:n.929T=
ENST00000316623.10:c.7632T= MANE Select	ENSP00000325527.5:p.Thr2544=
ENST00000674301.1:c.2798T=	ENSP00000501333.1:n.2798T=
ENST00000316623.9:c.7632T=	ENSP00000325527.5:p.Thr2544=
ENST00000559133.5:c.3001T=
NM_000138.4:c.7632T= , LRG_778t1:c.7632T=	NP_000129.3:p.Thr2544=
NM_000138.5:c.7632T= MANE Select	NP_000129.3:p.Thr2544=