Canonical Allele Identifier: CA2175488063

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412712C= , CM000677.2:g.48412712C=	GRCh38
NC_000015.9:g.48704909C= , CM000677.1:g.48704909C=	GRCh37
NC_000015.8:g.46492201C=	NCBI36
NG_008805.2:g.238077G= , LRG_778:g.238077G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*891G=	ENSP00000453958.2:n.*891G=
ENST00000674301.2:c.*1596G=	ENSP00000501333.2:n.*1596G=
ENST00000682158.1:n.1464G=
ENST00000682170.1:n.2264G=
ENST00000682767.1:n.1380G=
ENST00000316623.10:c.8083G= MANE Select	ENSP00000325527.5:p.Gly2695=
ENST00000674301.1:c.3249G=	ENSP00000501333.1:n.3249G=
ENST00000316623.9:c.8083G=	ENSP00000325527.5:p.Gly2695=
ENST00000559133.5:c.3452G=
ENST00000561429.1:n.338G=
NM_000138.4:c.8083G= , LRG_778t1:c.8083G=	NP_000129.3:p.Gly2695=
NM_000138.5:c.8083G= MANE Select	NP_000129.3:p.Gly2695=