Canonical Allele Identifier: CA2175486543

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411226A= , CM000677.2:g.48411226A=	GRCh38
NC_000015.9:g.48703423A= , CM000677.1:g.48703423A=	GRCh37
NC_000015.8:g.46490715A=	NCBI36
NG_008805.2:g.239563T= , LRG_778:g.239563T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1188T=	ENSP00000453958.2:n.*1188T=
ENST00000674301.2:c.*1893T=	ENSP00000501333.2:n.*1893T=
ENST00000682158.1:n.1761T=
ENST00000682170.1:n.2561T=
ENST00000682767.1:n.1677T=
ENST00000316623.10:c.8380T= MANE Select	ENSP00000325527.5:p.Leu2794=
ENST00000674301.1:c.3546T=	ENSP00000501333.1:n.3546T=
ENST00000316623.9:c.8380T=	ENSP00000325527.5:p.Leu2794=
ENST00000559133.5:c.3749T=
ENST00000561429.1:n.635T=
NM_000138.4:c.8380T= , LRG_778t1:c.8380T=	NP_000129.3:p.Leu2794=
NM_000138.5:c.8380T= MANE Select	NP_000129.3:p.Leu2794=