Canonical Allele Identifier: CA2175486156

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411070C= , CM000677.2:g.48411070C=	GRCh38
NC_000015.9:g.48703267C= , CM000677.1:g.48703267C=	GRCh37
NC_000015.8:g.46490559C=	NCBI36
NG_008805.2:g.239719G= , LRG_778:g.239719G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1344G=	ENSP00000453958.2:n.*1344G=
ENST00000682158.1:n.1917G=
ENST00000682170.1:n.2717G=
ENST00000682767.1:n.1833G=
ENST00000316623.10:c.8536G= MANE Select	ENSP00000325527.5:p.Glu2846=
ENST00000316623.9:c.8536G=	ENSP00000325527.5:p.Glu2846=
ENST00000559133.5:c.3905G=
NM_000138.4:c.8536G= , LRG_778t1:c.8536G=	NP_000129.3:p.Glu2846=
NM_000138.5:c.8536G= MANE Select	NP_000129.3:p.Glu2846=