Canonical Allele Identifier: CA2175508665

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441740G= , CM000677.2:g.48441740G=	GRCh38
NC_000015.9:g.48733937G= , CM000677.1:g.48733937G=	GRCh37
NC_000015.8:g.46521229G=	NCBI36
NG_008805.2:g.209049C= , LRG_778:g.209049C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6144C=	ENSP00000453958.2:p.Ser2048=
ENST00000674301.2:c.6144C=	ENSP00000501333.2:p.Ser2048=
ENST00000316623.10:c.6144C= MANE Select	ENSP00000325527.5:p.Ser2048=
ENST00000674301.1:c.1143C=	ENSP00000501333.1:p.Ser381=
ENST00000316623.9:c.6144C=	ENSP00000325527.5:p.Ser2048=
ENST00000537463.6:c.*1907C=	ENSP00000440294.2:n.*1907C=
ENST00000559133.5:c.1451C=
ENST00000560820.1:n.264C=
NM_000138.4:c.6144C= , LRG_778t1:c.6144C=	NP_000129.3:p.Ser2048=
NM_000138.5:c.6144C= MANE Select	NP_000129.3:p.Ser2048=