Canonical Allele Identifier: CA2175573543

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48610813A= , CM000677.2:g.48610813A=	GRCh38
NC_000015.9:g.48903010A= , CM000677.1:g.48903010A=	GRCh37
NC_000015.8:g.46690302A=	NCBI36
NG_008805.2:g.39976T= , LRG_778:g.39976T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.261T=	ENSP00000453958.2:p.His87=
ENST00000674301.2:c.261T=	ENSP00000501333.2:p.His87=
ENST00000316623.10:c.261T= MANE Select	ENSP00000325527.5:p.His87=
ENST00000316623.9:c.261T=	ENSP00000325527.5:p.His87=
ENST00000537463.6:c.261T=	ENSP00000440294.2:p.His87=
NM_000138.4:c.261T= , LRG_778t1:c.261T=	NP_000129.3:p.His87=
NM_000138.5:c.261T= MANE Select	NP_000129.3:p.His87=