Canonical Allele Identifier: CA2175486149

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411068T= , CM000677.2:g.48411068T=	GRCh38
NC_000015.9:g.48703265T= , CM000677.1:g.48703265T=	GRCh37
NC_000015.8:g.46490557T=	NCBI36
NG_008805.2:g.239721A= , LRG_778:g.239721A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1346A=	ENSP00000453958.2:n.*1346A=
ENST00000682158.1:n.1919A=
ENST00000682170.1:n.2719A=
ENST00000682767.1:n.1835A=
ENST00000316623.10:c.8538A= MANE Select	ENSP00000325527.5:p.Glu2846=
ENST00000316623.9:c.8538A=	ENSP00000325527.5:p.Glu2846=
ENST00000559133.5:c.3907A=
NM_000138.4:c.8538A= , LRG_778t1:c.8538A=	NP_000129.3:p.Glu2846=
NM_000138.5:c.8538A= MANE Select	NP_000129.3:p.Glu2846=