Canonical Allele Identifier: CA2175486241

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411102G= , CM000677.2:g.48411102G=	GRCh38
NC_000015.9:g.48703299G= , CM000677.1:g.48703299G=	GRCh37
NC_000015.8:g.46490591G=	NCBI36
NG_008805.2:g.239687C= , LRG_778:g.239687C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1312C=	ENSP00000453958.2:n.*1312C=
ENST00000674301.2:c.*2017C=	ENSP00000501333.2:n.*2017C=
ENST00000682158.1:n.1885C=
ENST00000682170.1:n.2685C=
ENST00000682767.1:n.1801C=
ENST00000316623.10:c.8504C= MANE Select	ENSP00000325527.5:p.Pro2835=
ENST00000674301.1:c.3670C=	ENSP00000501333.1:n.3670C=
ENST00000316623.9:c.8504C=	ENSP00000325527.5:p.Pro2835=
ENST00000559133.5:c.3873C=
NM_000138.4:c.8504C= , LRG_778t1:c.8504C=	NP_000129.3:p.Pro2835=
NM_000138.5:c.8504C= MANE Select	NP_000129.3:p.Pro2835=