Canonical Allele Identifier: CA2175489306

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415491C= , CM000677.2:g.48415491C=	GRCh38
NC_000015.9:g.48707688C= , CM000677.1:g.48707688C=	GRCh37
NC_000015.8:g.46494980C=	NCBI36
NG_008805.2:g.235298G= , LRG_778:g.235298G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*859+45G=	ENSP00000453958.2:n.*859+45G=
ENST00000674301.2:c.*1564+45G=	ENSP00000501333.2:n.*1564+45G=
ENST00000682158.1:n.1432+45G=
ENST00000682170.1:n.2232+45G=
ENST00000682767.1:n.1348+45G=
ENST00000316623.10:c.8051+45G= MANE Select	ENSP00000325527.5:n.8051+45G=
ENST00000674301.1:c.3217+45G=	ENSP00000501333.1:n.3217+45G=
ENST00000316623.9:c.8051+45G=	ENSP00000325527.5:n.8051+45G=
ENST00000559133.5:c.3420+45G=
ENST00000561429.1:n.306+45G=
NM_000138.4:c.8051+45G= , LRG_778t1:c.8051+45G=	NP_000129.3:n.8051+45G=
NM_000138.5:c.8051+45G= MANE Select	NP_000129.3:n.8051+45G=