Canonical Allele Identifier: CA2175486057

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410939T= , CM000677.2:g.48410939T=	GRCh38
NC_000015.9:g.48703136T= , CM000677.1:g.48703136T=	GRCh37
NC_000015.8:g.46490428T=	NCBI36
NG_008805.2:g.239850A= , LRG_778:g.239850A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1475A=	ENSP00000453958.2:n.*1475A=
ENST00000682158.1:n.2048A=
ENST00000682170.1:n.2848A=
ENST00000682767.1:n.1964A=
ENST00000316623.10:c.*51A= MANE Select	ENSP00000325527.5:n.*51A=
ENST00000316623.9:c.*51A=	ENSP00000325527.5:n.*51A=
ENST00000559133.5:c.4036A=
NM_000138.4:c.*51A= , LRG_778t1:c.*51A=	NP_000129.3:n.*51A=
NM_000138.5:c.*51A= MANE Select	NP_000129.3:n.*51A=