Canonical Allele Identifier: CA2175508884

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441782G= , CM000677.2:g.48441782G=	GRCh38
NC_000015.9:g.48733979G= , CM000677.1:g.48733979G=	GRCh37
NC_000015.8:g.46521271G=	NCBI36
NG_008805.2:g.209007C= , LRG_778:g.209007C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6102C=	ENSP00000453958.2:p.Gly2034=
ENST00000674301.2:c.6102C=	ENSP00000501333.2:p.Gly2034=
ENST00000316623.10:c.6102C= MANE Select	ENSP00000325527.5:p.Gly2034=
ENST00000674301.1:c.1101C=	ENSP00000501333.1:p.Gly367=
ENST00000316623.9:c.6102C=	ENSP00000325527.5:p.Gly2034=
ENST00000537463.6:c.*1865C=	ENSP00000440294.2:n.*1865C=
ENST00000559133.5:c.1409C=
ENST00000560820.1:n.222C=
NM_000138.4:c.6102C= , LRG_778t1:c.6102C=	NP_000129.3:p.Gly2034=
NM_000138.5:c.6102C= MANE Select	NP_000129.3:p.Gly2034=