Canonical Allele Identifier: CA2175486113

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411042C= , CM000677.2:g.48411042C=	GRCh38
NC_000015.9:g.48703239C= , CM000677.1:g.48703239C=	GRCh37
NC_000015.8:g.46490531C=	NCBI36
NG_008805.2:g.239747G= , LRG_778:g.239747G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1372G=	ENSP00000453958.2:n.*1372G=
ENST00000682158.1:n.1945G=
ENST00000682170.1:n.2745G=
ENST00000682767.1:n.1861G=
ENST00000316623.10:c.8564G= MANE Select	ENSP00000325527.5:p.Ser2855=
ENST00000316623.9:c.8564G=	ENSP00000325527.5:p.Ser2855=
ENST00000559133.5:c.3933G=
NM_000138.4:c.8564G= , LRG_778t1:c.8564G=	NP_000129.3:p.Ser2855=
NM_000138.5:c.8564G= MANE Select	NP_000129.3:p.Ser2855=