Canonical Allele Identifier: CA2175498078

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428373C= , CM000677.2:g.48428373C=	GRCh38
NC_000015.9:g.48720570C= , CM000677.1:g.48720570C=	GRCh37
NC_000015.8:g.46507862C=	NCBI36
NG_008805.2:g.222416G= , LRG_778:g.222416G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6970G=	ENSP00000453958.2:p.Ala2324=
ENST00000674301.2:c.*421G=	ENSP00000501333.2:n.*421G=
ENST00000682170.1:n.579G=
ENST00000682767.1:n.205G=
ENST00000316623.10:c.6970G= MANE Select	ENSP00000325527.5:p.Ala2324=
ENST00000674301.1:c.2074G=	ENSP00000501333.1:n.2074G=
ENST00000316623.9:c.6970G=	ENSP00000325527.5:p.Ala2324=
ENST00000559133.5:c.2277G=
ENST00000560720.1:n.257G=
NM_000138.4:c.6970G= , LRG_778t1:c.6970G=	NP_000129.3:p.Ala2324=
NM_000138.5:c.6970G= MANE Select	NP_000129.3:p.Ala2324=