Canonical Allele Identifier: CA2175486539

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411222A= , CM000677.2:g.48411222A=	GRCh38
NC_000015.9:g.48703419A= , CM000677.1:g.48703419A=	GRCh37
NC_000015.8:g.46490711A=	NCBI36
NG_008805.2:g.239567T= , LRG_778:g.239567T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1192T=	ENSP00000453958.2:n.*1192T=
ENST00000674301.2:c.*1897T=	ENSP00000501333.2:n.*1897T=
ENST00000682158.1:n.1765T=
ENST00000682170.1:n.2565T=
ENST00000682767.1:n.1681T=
ENST00000316623.10:c.8384T= MANE Select	ENSP00000325527.5:p.Ile2795=
ENST00000674301.1:c.3550T=	ENSP00000501333.1:n.3550T=
ENST00000316623.9:c.8384T=	ENSP00000325527.5:p.Ile2795=
ENST00000559133.5:c.3753T=
ENST00000561429.1:n.639T=
NM_000138.4:c.8384T= , LRG_778t1:c.8384T=	NP_000129.3:p.Ile2795=
NM_000138.5:c.8384T= MANE Select	NP_000129.3:p.Ile2795=