Canonical Allele Identifier: CA2175489343

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415570C= , CM000677.2:g.48415570C=	GRCh38
NC_000015.9:g.48707767C= , CM000677.1:g.48707767C=	GRCh37
NC_000015.8:g.46495059C=	NCBI36
NG_008805.2:g.235219G= , LRG_778:g.235219G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*825G=	ENSP00000453958.2:n.*825G=
ENST00000674301.2:c.*1530G=	ENSP00000501333.2:n.*1530G=
ENST00000682158.1:n.1398G=
ENST00000682170.1:n.2198G=
ENST00000682767.1:n.1314G=
ENST00000316623.10:c.8017G= MANE Select	ENSP00000325527.5:p.Gly2673=
ENST00000674301.1:c.3183G=	ENSP00000501333.1:n.3183G=
ENST00000316623.9:c.8017G=	ENSP00000325527.5:p.Gly2673=
ENST00000559133.5:c.3386G=
ENST00000561429.1:n.272G=
NM_000138.4:c.8017G= , LRG_778t1:c.8017G=	NP_000129.3:p.Gly2673=
NM_000138.5:c.8017G= MANE Select	NP_000129.3:p.Gly2673=