Canonical Allele Identifier: CA2175486656

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411280G= , CM000677.2:g.48411280G=	GRCh38
NC_000015.9:g.48703477G= , CM000677.1:g.48703477G=	GRCh37
NC_000015.8:g.46490769G=	NCBI36
NG_008805.2:g.239509C= , LRG_778:g.239509C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1134C=	ENSP00000453958.2:n.*1134C=
ENST00000674301.2:c.*1839C=	ENSP00000501333.2:n.*1839C=
ENST00000682158.1:n.1707C=
ENST00000682170.1:n.2507C=
ENST00000682767.1:n.1623C=
ENST00000316623.10:c.8326C= MANE Select	ENSP00000325527.5:p.Arg2776=
ENST00000674301.1:c.3492C=	ENSP00000501333.1:n.3492C=
ENST00000316623.9:c.8326C=	ENSP00000325527.5:p.Arg2776=
ENST00000559133.5:c.3695C=
ENST00000561429.1:n.581C=
NM_000138.4:c.8326C= , LRG_778t1:c.8326C=	NP_000129.3:p.Arg2776=
NM_000138.5:c.8326C= MANE Select	NP_000129.3:p.Arg2776=