Canonical Allele Identifier: CA2175486744

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411323T= , CM000677.2:g.48411323T=	GRCh38
NC_000015.9:g.48703520T= , CM000677.1:g.48703520T=	GRCh37
NC_000015.8:g.46490812T=	NCBI36
NG_008805.2:g.239466A= , LRG_778:g.239466A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1091A=	ENSP00000453958.2:n.*1091A=
ENST00000674301.2:c.*1796A=	ENSP00000501333.2:n.*1796A=
ENST00000682158.1:n.1664A=
ENST00000682170.1:n.2464A=
ENST00000682767.1:n.1580A=
ENST00000316623.10:c.8283A= MANE Select	ENSP00000325527.5:p.Thr2761=
ENST00000674301.1:c.3449A=	ENSP00000501333.1:n.3449A=
ENST00000316623.9:c.8283A=	ENSP00000325527.5:p.Thr2761=
ENST00000559133.5:c.3652A=
ENST00000561429.1:n.538A=
NM_000138.4:c.8283A= , LRG_778t1:c.8283A=	NP_000129.3:p.Thr2761=
NM_000138.5:c.8283A= MANE Select	NP_000129.3:p.Thr2761=