Canonical Allele Identifier: CA2175492157

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425361T= , CM000677.2:g.48425361T=	GRCh38
NC_000015.9:g.48717558T= , CM000677.1:g.48717558T=	GRCh37
NC_000015.8:g.46504850T=	NCBI36
NG_008805.2:g.225428A= , LRG_778:g.225428A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*261+8A=	ENSP00000453958.2:n.*261+8A=
ENST00000674301.2:c.*966+8A=	ENSP00000501333.2:n.*966+8A=
ENST00000682170.1:n.1634+8A=
ENST00000682767.1:n.750+8A=
ENST00000316623.10:c.7453+8A= MANE Select	ENSP00000325527.5:n.7453+8A=
ENST00000674301.1:c.2619+8A=	ENSP00000501333.1:n.2619+8A=
ENST00000316623.9:c.7453+8A=	ENSP00000325527.5:n.7453+8A=
ENST00000559133.5:c.2822+8A=
NM_000138.4:c.7453+8A= , LRG_778t1:c.7453+8A=	NP_000129.3:n.7453+8A=
NM_000138.5:c.7453+8A= MANE Select	NP_000129.3:n.7453+8A=