Canonical Allele Identifier: CA2175521326

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48497276T= , CM000677.2:g.48497276T=	GRCh38
NC_000015.9:g.48789473T= , CM000677.1:g.48789473T=	GRCh37
NC_000015.8:g.46576765T=	NCBI36
NG_008805.2:g.153513A= , LRG_778:g.153513A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2283A=	ENSP00000453958.2:p.Lys761=
ENST00000674301.2:c.2283A=	ENSP00000501333.2:p.Lys761=
ENST00000684448.1:n.957A=
ENST00000316623.10:c.2283A= MANE Select	ENSP00000325527.5:p.Lys761=
ENST00000316623.9:c.2283A=	ENSP00000325527.5:p.Lys761=
ENST00000537463.6:c.637-22626A=	ENSP00000440294.2:n.637-22626A=
NM_000138.4:c.2283A= , LRG_778t1:c.2283A=	NP_000129.3:p.Lys761=
NM_000138.5:c.2283A= MANE Select	NP_000129.3:p.Lys761=