Canonical Allele Identifier: CA2175492100

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425318G= , CM000677.2:g.48425318G=	GRCh38
NC_000015.9:g.48717515G= , CM000677.1:g.48717515G=	GRCh37
NC_000015.8:g.46504807G=	NCBI36
NG_008805.2:g.225471C= , LRG_778:g.225471C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*261+51C=	ENSP00000453958.2:n.*261+51C=
ENST00000674301.2:c.*966+51C=	ENSP00000501333.2:n.*966+51C=
ENST00000682170.1:n.1634+51C=
ENST00000682767.1:n.750+51C=
ENST00000316623.10:c.7453+51C= MANE Select	ENSP00000325527.5:n.7453+51C=
ENST00000674301.1:c.2619+51C=	ENSP00000501333.1:n.2619+51C=
ENST00000316623.9:c.7453+51C=	ENSP00000325527.5:n.7453+51C=
ENST00000559133.5:c.2822+51C=
NM_000138.4:c.7453+51C= , LRG_778t1:c.7453+51C=	NP_000129.3:n.7453+51C=
NM_000138.5:c.7453+51C= MANE Select	NP_000129.3:n.7453+51C=