Canonical Allele Identifier: CA2175508939

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441796T= , CM000677.2:g.48441796T=	GRCh38
NC_000015.9:g.48733993T= , CM000677.1:g.48733993T=	GRCh37
NC_000015.8:g.46521285T=	NCBI36
NG_008805.2:g.208993A= , LRG_778:g.208993A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6088A=	ENSP00000453958.2:p.Ser2030=
ENST00000674301.2:c.6088A=	ENSP00000501333.2:p.Ser2030=
ENST00000316623.10:c.6088A= MANE Select	ENSP00000325527.5:p.Ser2030=
ENST00000674301.1:c.1087A=	ENSP00000501333.1:p.Ser363=
ENST00000316623.9:c.6088A=	ENSP00000325527.5:p.Ser2030=
ENST00000537463.6:c.*1851A=	ENSP00000440294.2:n.*1851A=
ENST00000559133.5:c.1395A=
ENST00000560820.1:n.208A=
NM_000138.4:c.6088A= , LRG_778t1:c.6088A=	NP_000129.3:p.Ser2030=
NM_000138.5:c.6088A= MANE Select	NP_000129.3:p.Ser2030=