Canonical Allele Identifier: CA2175492146

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425347G= , CM000677.2:g.48425347G=	GRCh38
NC_000015.9:g.48717544G= , CM000677.1:g.48717544G=	GRCh37
NC_000015.8:g.46504836G=	NCBI36
NG_008805.2:g.225442C= , LRG_778:g.225442C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*261+22C=	ENSP00000453958.2:n.*261+22C=
ENST00000674301.2:c.*966+22C=	ENSP00000501333.2:n.*966+22C=
ENST00000682170.1:n.1634+22C=
ENST00000682767.1:n.750+22C=
ENST00000316623.10:c.7453+22C= MANE Select	ENSP00000325527.5:n.7453+22C=
ENST00000674301.1:c.2619+22C=	ENSP00000501333.1:n.2619+22C=
ENST00000316623.9:c.7453+22C=	ENSP00000325527.5:n.7453+22C=
ENST00000559133.5:c.2822+22C=
NM_000138.4:c.7453+22C= , LRG_778t1:c.7453+22C=	NP_000129.3:n.7453+22C=
NM_000138.5:c.7453+22C= MANE Select	NP_000129.3:n.7453+22C=