Canonical Allele Identifier: CA2175486228

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411096T= , CM000677.2:g.48411096T=	GRCh38
NC_000015.9:g.48703293T= , CM000677.1:g.48703293T=	GRCh37
NC_000015.8:g.46490585T=	NCBI36
NG_008805.2:g.239693A= , LRG_778:g.239693A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1318A=	ENSP00000453958.2:n.*1318A=
ENST00000674301.2:c.*2023A=	ENSP00000501333.2:n.*2023A=
ENST00000682158.1:n.1891A=
ENST00000682170.1:n.2691A=
ENST00000682767.1:n.1807A=
ENST00000316623.10:c.8510A= MANE Select	ENSP00000325527.5:p.Tyr2837=
ENST00000674301.1:c.3676A=	ENSP00000501333.1:n.3676A=
ENST00000316623.9:c.8510A=	ENSP00000325527.5:p.Tyr2837=
ENST00000559133.5:c.3879A=
NM_000138.4:c.8510A= , LRG_778t1:c.8510A=	NP_000129.3:p.Tyr2837=
NM_000138.5:c.8510A= MANE Select	NP_000129.3:p.Tyr2837=