Canonical Allele Identifier: CA2175496915

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434601T= , CM000677.2:g.48434601T=	GRCh38
NC_000015.9:g.48726798T= , CM000677.1:g.48726798T=	GRCh37
NC_000015.8:g.46514090T=	NCBI36
NG_008805.2:g.216188A= , LRG_778:g.216188A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6609A=	ENSP00000453958.2:p.Thr2203=
ENST00000674301.2:c.6609A=	ENSP00000501333.2:p.Thr2203=
ENST00000682170.1:n.218A=
ENST00000316623.10:c.6609A= MANE Select	ENSP00000325527.5:p.Thr2203=
ENST00000674301.1:c.1608A=	ENSP00000501333.1:p.Thr536=
ENST00000316623.9:c.6609A=	ENSP00000325527.5:p.Thr2203=
ENST00000537463.6:c.*2372A=	ENSP00000440294.2:n.*2372A=
ENST00000559133.5:c.1916A=
NM_000138.4:c.6609A= , LRG_778t1:c.6609A=	NP_000129.3:p.Thr2203=
NM_000138.5:c.6609A= MANE Select	NP_000129.3:p.Thr2203=