Canonical Allele Identifier: CA2175486610

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411256G= , CM000677.2:g.48411256G=	GRCh38
NC_000015.9:g.48703453G= , CM000677.1:g.48703453G=	GRCh37
NC_000015.8:g.46490745G=	NCBI36
NG_008805.2:g.239533C= , LRG_778:g.239533C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*1158C=	ENSP00000453958.2:n.*1158C=
ENST00000674301.2:c.*1863C=	ENSP00000501333.2:n.*1863C=
ENST00000682158.1:n.1731C=
ENST00000682170.1:n.2531C=
ENST00000682767.1:n.1647C=
ENST00000316623.10:c.8350C= MANE Select	ENSP00000325527.5:p.Leu2784=
ENST00000674301.1:c.3516C=	ENSP00000501333.1:n.3516C=
ENST00000316623.9:c.8350C=	ENSP00000325527.5:p.Leu2784=
ENST00000559133.5:c.3719C=
ENST00000561429.1:n.605C=
NM_000138.4:c.8350C= , LRG_778t1:c.8350C=	NP_000129.3:p.Leu2784=
NM_000138.5:c.8350C= MANE Select	NP_000129.3:p.Leu2784=