Canonical Allele Identifier: CA2175464318

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421963G= , CM000677.2:g.48421963G=	GRCh38
NC_000015.9:g.48714160G= , CM000677.1:g.48714160G=	GRCh37
NC_000015.8:g.46501452G=	NCBI36
NG_008805.2:g.228826C= , LRG_778:g.228826C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*367C=	ENSP00000453958.2:n.*367C=
ENST00000674301.2:c.*1072C=	ENSP00000501333.2:n.*1072C=
ENST00000682170.1:n.1740C=
ENST00000682767.1:n.856C=
ENST00000316623.10:c.7559C= MANE Select	ENSP00000325527.5:p.Thr2520=
ENST00000674301.1:c.2725C=	ENSP00000501333.1:n.2725C=
ENST00000316623.9:c.7559C=	ENSP00000325527.5:p.Thr2520=
ENST00000559133.5:c.2928C=
NM_000138.4:c.7559C= , LRG_778t1:c.7559C=	NP_000129.3:p.Thr2520=
NM_000138.5:c.7559C= MANE Select	NP_000129.3:p.Thr2520=