Canonical Allele Identifier: CA2175502452

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430706C= , CM000677.2:g.48430706C=	GRCh38
NC_000015.9:g.48722903C= , CM000677.1:g.48722903C=	GRCh37
NC_000015.8:g.46510195C=	NCBI36
NG_008805.2:g.220083G= , LRG_778:g.220083G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6836G=	ENSP00000453958.2:p.Gly2279=
ENST00000674301.2:c.*287G=	ENSP00000501333.2:n.*287G=
ENST00000682170.1:n.445G=
ENST00000316623.10:c.6836G= MANE Select	ENSP00000325527.5:p.Gly2279=
ENST00000674301.1:c.1940G=	ENSP00000501333.1:n.1940G=
ENST00000316623.9:c.6836G=	ENSP00000325527.5:p.Gly2279=
ENST00000559133.5:c.2143G=
ENST00000560720.1:n.123G=
NM_000138.4:c.6836G= , LRG_778t1:c.6836G=	NP_000129.3:p.Gly2279=
NM_000138.5:c.6836G= MANE Select	NP_000129.3:p.Gly2279=