Canonical Allele Identifier: CA2175511971

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48444559G= , CM000677.2:g.48444559G=	GRCh38
NC_000015.9:g.48736756G= , CM000677.1:g.48736756G=	GRCh37
NC_000015.8:g.46524048G=	NCBI36
NG_008805.2:g.206230C= , LRG_778:g.206230C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6019C=	ENSP00000453958.2:p.Gln2007=
ENST00000674301.2:c.6019C=	ENSP00000501333.2:p.Gln2007=
ENST00000684448.1:n.4693C=
ENST00000316623.10:c.6019C= MANE Select	ENSP00000325527.5:p.Gln2007=
ENST00000674301.1:c.1018C=	ENSP00000501333.1:p.Gln340=
ENST00000316623.9:c.6019C=	ENSP00000325527.5:p.Gln2007=
ENST00000537463.6:c.*1782C=	ENSP00000440294.2:n.*1782C=
ENST00000559133.5:c.1326C=
ENST00000560820.1:n.139C=
NM_000138.4:c.6019C= , LRG_778t1:c.6019C=	NP_000129.3:p.Gln2007=
NM_000138.5:c.6019C= MANE Select	NP_000129.3:p.Gln2007=