Canonical Allele Identifier: CA2175489459

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415759C= , CM000677.2:g.48415759C=	GRCh38
NC_000015.9:g.48707956C= , CM000677.1:g.48707956C=	GRCh37
NC_000015.8:g.46495248C=	NCBI36
NG_008805.2:g.235030G= , LRG_778:g.235030G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7828G= MANE Select	NP_000129.3:p.Glu2610=
ENST00000316623.10:c.7828G= MANE Select	ENSP00000325527.5:p.Glu2610=
NM_000138.4:c.7828G= , LRG_778t1:c.7828G=	NP_000129.3:p.Glu2610=
ENST00000316623.9:c.7828G=	ENSP00000325527.5:p.Glu2610=
ENST00000559133.5:c.3197G=
ENST00000559133.6:c.*636G=	ENSP00000453958.2:n.*636G=
ENST00000561429.1:n.83G=
ENST00000674301.1:c.2994G=	ENSP00000501333.1:n.2994G=
ENST00000674301.2:c.*1341G=	ENSP00000501333.2:n.*1341G=
ENST00000682158.1:n.1209G=
ENST00000682170.1:n.2009G=
ENST00000682767.1:n.1125G=