Canonical Allele Identifier: CA2175494258

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48432914T= , CM000677.2:g.48432914T=	GRCh38
NC_000015.9:g.48725111T= , CM000677.1:g.48725111T=	GRCh37
NC_000015.8:g.46512403T=	NCBI36
NG_008805.2:g.217875A= , LRG_778:g.217875A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6691A=	ENSP00000453958.2:p.Lys2231=
ENST00000674301.2:c.*142A=	ENSP00000501333.2:n.*142A=
ENST00000682170.1:n.300A=
ENST00000316623.10:c.6691A= MANE Select	ENSP00000325527.5:p.Lys2231=
ENST00000674301.1:c.1795A=	ENSP00000501333.1:n.1795A=
ENST00000316623.9:c.6691A=	ENSP00000325527.5:p.Lys2231=
ENST00000537463.6:c.*2454A=	ENSP00000440294.2:n.*2454A=
ENST00000559133.5:c.1998A=
NM_000138.4:c.6691A= , LRG_778t1:c.6691A=	NP_000129.3:p.Lys2231=
NM_000138.5:c.6691A= MANE Select	NP_000129.3:p.Lys2231=