Canonical Allele Identifier: CA2175488044

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412673T= , CM000677.2:g.48412673T=	GRCh38
NC_000015.9:g.48704870T= , CM000677.1:g.48704870T=	GRCh37
NC_000015.8:g.46492162T=	NCBI36
NG_008805.2:g.238116A= , LRG_778:g.238116A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*930A=	ENSP00000453958.2:n.*930A=
ENST00000674301.2:c.*1635A=	ENSP00000501333.2:n.*1635A=
ENST00000682158.1:n.1503A=
ENST00000682170.1:n.2303A=
ENST00000682767.1:n.1419A=
ENST00000316623.10:c.8122A= MANE Select	ENSP00000325527.5:p.Asn2708=
ENST00000674301.1:c.3288A=	ENSP00000501333.1:n.3288A=
ENST00000316623.9:c.8122A=	ENSP00000325527.5:p.Asn2708=
ENST00000559133.5:c.3491A=
ENST00000561429.1:n.377A=
NM_000138.4:c.8122A= , LRG_778t1:c.8122A=	NP_000129.3:p.Asn2708=
NM_000138.5:c.8122A= MANE Select	NP_000129.3:p.Asn2708=