Canonical Allele Identifier: CA2175492364

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445392A= , CM000677.2:g.48445392A=	GRCh38
NC_000015.9:g.48737589A= , CM000677.1:g.48737589A=	GRCh37
NC_000015.8:g.46524881A=	NCBI36
NG_008805.2:g.205397T= , LRG_778:g.205397T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5901T=	ENSP00000453958.2:p.Asp1967=
ENST00000674301.2:c.5901T=	ENSP00000501333.2:p.Asp1967=
ENST00000684448.1:n.4575T=
ENST00000316623.10:c.5901T= MANE Select	ENSP00000325527.5:p.Asp1967=
ENST00000674301.1:c.900T=	ENSP00000501333.1:p.Asp300=
ENST00000316623.9:c.5901T=	ENSP00000325527.5:p.Asp1967=
ENST00000537463.6:c.*1664T=	ENSP00000440294.2:n.*1664T=
ENST00000559133.5:c.1208T=
ENST00000560820.1:n.21T=
NM_000138.4:c.5901T= , LRG_778t1:c.5901T=	NP_000129.3:p.Asp1967=
NM_000138.5:c.5901T= MANE Select	NP_000129.3:p.Asp1967=