Canonical Allele Identifier: CA2175489315

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415509A= , CM000677.2:g.48415509A=	GRCh38
NC_000015.9:g.48707706A= , CM000677.1:g.48707706A=	GRCh37
NC_000015.8:g.46494998A=	NCBI36
NG_008805.2:g.235280T= , LRG_778:g.235280T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*859+27T=	ENSP00000453958.2:n.*859+27T=
ENST00000674301.2:c.*1564+27T=	ENSP00000501333.2:n.*1564+27T=
ENST00000682158.1:n.1432+27T=
ENST00000682170.1:n.2232+27T=
ENST00000682767.1:n.1348+27T=
ENST00000316623.10:c.8051+27T= MANE Select	ENSP00000325527.5:n.8051+27T=
ENST00000674301.1:c.3217+27T=	ENSP00000501333.1:n.3217+27T=
ENST00000316623.9:c.8051+27T=	ENSP00000325527.5:n.8051+27T=
ENST00000559133.5:c.3420+27T=
ENST00000561429.1:n.306+27T=
NM_000138.4:c.8051+27T= , LRG_778t1:c.8051+27T=	NP_000129.3:n.8051+27T=
NM_000138.5:c.8051+27T= MANE Select	NP_000129.3:n.8051+27T=