Canonical Allele Identifier: CA2175486540

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411224C= , CM000677.2:g.48411224C=	GRCh38
NC_000015.9:g.48703421C= , CM000677.1:g.48703421C=	GRCh37
NC_000015.8:g.46490713C=	NCBI36
NG_008805.2:g.239565G= , LRG_778:g.239565G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1190G=	ENSP00000453958.2:n.*1190G=
ENST00000674301.2:c.*1895G=	ENSP00000501333.2:n.*1895G=
ENST00000682158.1:n.1763G=
ENST00000682170.1:n.2563G=
ENST00000682767.1:n.1679G=
ENST00000316623.10:c.8382G= MANE Select	ENSP00000325527.5:p.Leu2794=
ENST00000674301.1:c.3548G=	ENSP00000501333.1:n.3548G=
ENST00000316623.9:c.8382G=	ENSP00000325527.5:p.Leu2794=
ENST00000559133.5:c.3751G=
ENST00000561429.1:n.637G=
NM_000138.4:c.8382G= , LRG_778t1:c.8382G=	NP_000129.3:p.Leu2794=
NM_000138.5:c.8382G= MANE Select	NP_000129.3:p.Leu2794=