Canonical Allele Identifier: CA2175492096

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425307G= , CM000677.2:g.48425307G=	GRCh38
NC_000015.9:g.48717504G= , CM000677.1:g.48717504G=	GRCh37
NC_000015.8:g.46504796G=	NCBI36
NG_008805.2:g.225482C= , LRG_778:g.225482C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*261+62C=	ENSP00000453958.2:n.*261+62C=
ENST00000674301.2:c.*966+62C=	ENSP00000501333.2:n.*966+62C=
ENST00000682170.1:n.1634+62C=
ENST00000682767.1:n.750+62C=
ENST00000316623.10:c.7453+62C= MANE Select	ENSP00000325527.5:n.7453+62C=
ENST00000674301.1:c.2619+62C=	ENSP00000501333.1:n.2619+62C=
ENST00000316623.9:c.7453+62C=	ENSP00000325527.5:n.7453+62C=
ENST00000559133.5:c.2822+62C=
NM_000138.4:c.7453+62C= , LRG_778t1:c.7453+62C=	NP_000129.3:n.7453+62C=
NM_000138.5:c.7453+62C= MANE Select	NP_000129.3:n.7453+62C=