Canonical Allele Identifier: CA2175497061

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434624A= , CM000677.2:g.48434624A=	GRCh38
NC_000015.9:g.48726821A= , CM000677.1:g.48726821A=	GRCh37
NC_000015.8:g.46514113A=	NCBI36
NG_008805.2:g.216165T= , LRG_778:g.216165T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6586T=	ENSP00000453958.2:p.Phe2196=
ENST00000674301.2:c.6586T=	ENSP00000501333.2:p.Phe2196=
ENST00000682170.1:n.195T=
ENST00000316623.10:c.6586T= MANE Select	ENSP00000325527.5:p.Phe2196=
ENST00000674301.1:c.1585T=	ENSP00000501333.1:p.Phe529=
ENST00000316623.9:c.6586T=	ENSP00000325527.5:p.Phe2196=
ENST00000537463.6:c.*2349T=	ENSP00000440294.2:n.*2349T=
ENST00000559133.5:c.1893T=
NM_000138.4:c.6586T= , LRG_778t1:c.6586T=	NP_000129.3:p.Phe2196=
NM_000138.5:c.6586T= MANE Select	NP_000129.3:p.Phe2196=