Canonical Allele Identifier: CA2175486027

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410864C= , CM000677.2:g.48410864C=	GRCh38
NC_000015.9:g.48703061C= , CM000677.1:g.48703061C=	GRCh37
NC_000015.8:g.46490353C=	NCBI36
NG_008805.2:g.239925G= , LRG_778:g.239925G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1550G=	ENSP00000453958.2:n.*1550G=
ENST00000682158.1:n.2123G=
ENST00000682170.1:n.2923G=
ENST00000682767.1:n.2039G=
ENST00000316623.10:c.*126G= MANE Select	ENSP00000325527.5:n.*126G=
ENST00000316623.9:c.*126G=	ENSP00000325527.5:n.*126G=
ENST00000559133.5:c.4111G=
NM_000138.4:c.*126G= , LRG_778t1:c.*126G=	NP_000129.3:n.*126G=
NM_000138.5:c.*126G= MANE Select	NP_000129.3:n.*126G=