Canonical Allele Identifier: CA2175492080

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425297A= , CM000677.2:g.48425297A=	GRCh38
NC_000015.9:g.48717494A= , CM000677.1:g.48717494A=	GRCh37
NC_000015.8:g.46504786A=	NCBI36
NG_008805.2:g.225492T= , LRG_778:g.225492T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*261+72T=	ENSP00000453958.2:n.*261+72T=
ENST00000674301.2:c.*966+72T=	ENSP00000501333.2:n.*966+72T=
ENST00000682170.1:n.1634+72T=
ENST00000682767.1:n.750+72T=
ENST00000316623.10:c.7453+72T= MANE Select	ENSP00000325527.5:n.7453+72T=
ENST00000674301.1:c.2619+72T=	ENSP00000501333.1:n.2619+72T=
ENST00000316623.9:c.7453+72T=	ENSP00000325527.5:n.7453+72T=
ENST00000559133.5:c.2822+72T=
NM_000138.4:c.7453+72T= , LRG_778t1:c.7453+72T=	NP_000129.3:n.7453+72T=
NM_000138.5:c.7453+72T= MANE Select	NP_000129.3:n.7453+72T=