Canonical Allele Identifier: CA2175486012

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410837C= , CM000677.2:g.48410837C=	GRCh38
NC_000015.9:g.48703034C= , CM000677.1:g.48703034C=	GRCh37
NC_000015.8:g.46490326C=	NCBI36
NG_008805.2:g.239952G= , LRG_778:g.239952G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1577G=	ENSP00000453958.2:n.*1577G=
ENST00000682158.1:n.2150G=
ENST00000682170.1:n.2950G=
ENST00000682767.1:n.2066G=
ENST00000316623.10:c.*153G= MANE Select	ENSP00000325527.5:n.*153G=
ENST00000316623.9:c.*153G=	ENSP00000325527.5:n.*153G=
ENST00000559133.5:c.4138G=
NM_000138.4:c.*153G= , LRG_778t1:c.*153G=	NP_000129.3:n.*153G=
NM_000138.5:c.*153G= MANE Select	NP_000129.3:n.*153G=