Canonical Allele Identifier: CA2175486681

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411295C= , CM000677.2:g.48411295C=	GRCh38
NC_000015.9:g.48703492C= , CM000677.1:g.48703492C=	GRCh37
NC_000015.8:g.46490784C=	NCBI36
NG_008805.2:g.239494G= , LRG_778:g.239494G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1119G=	ENSP00000453958.2:n.*1119G=
ENST00000674301.2:c.*1824G=	ENSP00000501333.2:n.*1824G=
ENST00000682158.1:n.1692G=
ENST00000682170.1:n.2492G=
ENST00000682767.1:n.1608G=
ENST00000316623.10:c.8311G= MANE Select	ENSP00000325527.5:p.Val2771=
ENST00000674301.1:c.3477G=	ENSP00000501333.1:n.3477G=
ENST00000316623.9:c.8311G=	ENSP00000325527.5:p.Val2771=
ENST00000559133.5:c.3680G=
ENST00000561429.1:n.566G=
NM_000138.4:c.8311G= , LRG_778t1:c.8311G=	NP_000129.3:p.Val2771=
NM_000138.5:c.8311G= MANE Select	NP_000129.3:p.Val2771=