Canonical Allele Identifier: CA2175502782

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430758G= , CM000677.2:g.48430758G=	GRCh38
NC_000015.9:g.48722955G= , CM000677.1:g.48722955G=	GRCh37
NC_000015.8:g.46510247G=	NCBI36
NG_008805.2:g.220031C= , LRG_778:g.220031C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6784C=	ENSP00000453958.2:p.Gln2262=
ENST00000674301.2:c.*235C=	ENSP00000501333.2:n.*235C=
ENST00000682170.1:n.393C=
ENST00000316623.10:c.6784C= MANE Select	ENSP00000325527.5:p.Gln2262=
ENST00000674301.1:c.1888C=	ENSP00000501333.1:n.1888C=
ENST00000316623.9:c.6784C=	ENSP00000325527.5:p.Gln2262=
ENST00000559133.5:c.2091C=
ENST00000560720.1:n.71C=
NM_000138.4:c.6784C= , LRG_778t1:c.6784C=	NP_000129.3:p.Gln2262=
NM_000138.5:c.6784C= MANE Select	NP_000129.3:p.Gln2262=