Canonical Allele Identifier: CA2175511974

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48444561A= , CM000677.2:g.48444561A=	GRCh38
NC_000015.9:g.48736758A= , CM000677.1:g.48736758A=	GRCh37
NC_000015.8:g.46524050A=	NCBI36
NG_008805.2:g.206228T= , LRG_778:g.206228T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6017T=	ENSP00000453958.2:p.Leu2006=
ENST00000674301.2:c.6017T=	ENSP00000501333.2:p.Leu2006=
ENST00000684448.1:n.4691T=
ENST00000316623.10:c.6017T= MANE Select	ENSP00000325527.5:p.Leu2006=
ENST00000674301.1:c.1016T=	ENSP00000501333.1:p.Leu339=
ENST00000316623.9:c.6017T=	ENSP00000325527.5:p.Leu2006=
ENST00000537463.6:c.*1780T=	ENSP00000440294.2:n.*1780T=
ENST00000559133.5:c.1324T=
ENST00000560820.1:n.137T=
NM_000138.4:c.6017T= , LRG_778t1:c.6017T=	NP_000129.3:p.Leu2006=
NM_000138.5:c.6017T= MANE Select	NP_000129.3:p.Leu2006=