Canonical Allele Identifier: CA2175487931

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412579G= , CM000677.2:g.48412579G=	GRCh38
NC_000015.9:g.48704776G= , CM000677.1:g.48704776G=	GRCh37
NC_000015.8:g.46492068G=	NCBI36
NG_008805.2:g.238210C= , LRG_778:g.238210C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1024C=	ENSP00000453958.2:n.*1024C=
ENST00000674301.2:c.*1729C=	ENSP00000501333.2:n.*1729C=
ENST00000682158.1:n.1597C=
ENST00000682170.1:n.2397C=
ENST00000682767.1:n.1513C=
ENST00000316623.10:c.8216C= MANE Select	ENSP00000325527.5:p.Ser2739=
ENST00000674301.1:c.3382C=	ENSP00000501333.1:n.3382C=
ENST00000316623.9:c.8216C=	ENSP00000325527.5:p.Ser2739=
ENST00000559133.5:c.3585C=
ENST00000561429.1:n.471C=
NM_000138.4:c.8216C= , LRG_778t1:c.8216C=	NP_000129.3:p.Ser2739=
NM_000138.5:c.8216C= MANE Select	NP_000129.3:p.Ser2739=