Canonical Allele Identifier: CA2175486347

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411138A= , CM000677.2:g.48411138A=	GRCh38
NC_000015.9:g.48703335A= , CM000677.1:g.48703335A=	GRCh37
NC_000015.8:g.46490627A=	NCBI36
NG_008805.2:g.239651T= , LRG_778:g.239651T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1276T=	ENSP00000453958.2:n.*1276T=
ENST00000674301.2:c.*1981T=	ENSP00000501333.2:n.*1981T=
ENST00000682158.1:n.1849T=
ENST00000682170.1:n.2649T=
ENST00000682767.1:n.1765T=
ENST00000316623.10:c.8468T= MANE Select	ENSP00000325527.5:p.Val2823=
ENST00000674301.1:c.3634T=	ENSP00000501333.1:n.3634T=
ENST00000316623.9:c.8468T=	ENSP00000325527.5:p.Val2823=
ENST00000559133.5:c.3837T=
NM_000138.4:c.8468T= , LRG_778t1:c.8468T=	NP_000129.3:p.Val2823=
NM_000138.5:c.8468T= MANE Select	NP_000129.3:p.Val2823=