Canonical Allele Identifier: CA2175488069

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412723C= , CM000677.2:g.48412723C=	GRCh38
NC_000015.9:g.48704920C= , CM000677.1:g.48704920C=	GRCh37
NC_000015.8:g.46492212C=	NCBI36
NG_008805.2:g.238066G= , LRG_778:g.238066G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*880G=	ENSP00000453958.2:n.*880G=
ENST00000674301.2:c.*1585G=	ENSP00000501333.2:n.*1585G=
ENST00000682158.1:n.1453G=
ENST00000682170.1:n.2253G=
ENST00000682767.1:n.1369G=
ENST00000316623.10:c.8072G= MANE Select	ENSP00000325527.5:p.Gly2691=
ENST00000674301.1:c.3238G=	ENSP00000501333.1:n.3238G=
ENST00000316623.9:c.8072G=	ENSP00000325527.5:p.Gly2691=
ENST00000559133.5:c.3441G=
ENST00000561429.1:n.327G=
NM_000138.4:c.8072G= , LRG_778t1:c.8072G=	NP_000129.3:p.Gly2691=
NM_000138.5:c.8072G= MANE Select	NP_000129.3:p.Gly2691=