Canonical Allele Identifier: CA2175488031

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412647G= , CM000677.2:g.48412647G=	GRCh38
NC_000015.9:g.48704844G= , CM000677.1:g.48704844G=	GRCh37
NC_000015.8:g.46492136G=	NCBI36
NG_008805.2:g.238142C= , LRG_778:g.238142C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*956C=	ENSP00000453958.2:n.*956C=
ENST00000674301.2:c.*1661C=	ENSP00000501333.2:n.*1661C=
ENST00000682158.1:n.1529C=
ENST00000682170.1:n.2329C=
ENST00000682767.1:n.1445C=
ENST00000316623.10:c.8148C= MANE Select	ENSP00000325527.5:p.Tyr2716=
ENST00000674301.1:c.3314C=	ENSP00000501333.1:n.3314C=
ENST00000316623.9:c.8148C=	ENSP00000325527.5:p.Tyr2716=
ENST00000559133.5:c.3517C=
ENST00000561429.1:n.403C=
NM_000138.4:c.8148C= , LRG_778t1:c.8148C=	NP_000129.3:p.Tyr2716=
NM_000138.5:c.8148C= MANE Select	NP_000129.3:p.Tyr2716=