Canonical Allele Identifier: CA2175509463

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48483861A= , CM000677.2:g.48483861A=	GRCh38
NC_000015.9:g.48776058A= , CM000677.1:g.48776058A=	GRCh37
NC_000015.8:g.46563350A=	NCBI36
NG_008805.2:g.166928T= , LRG_778:g.166928T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3795T=	ENSP00000453958.2:p.Cys1265=
ENST00000674301.2:c.3795T=	ENSP00000501333.2:p.Cys1265=
ENST00000684448.1:n.2469T=
ENST00000316623.10:c.3795T= MANE Select	ENSP00000325527.5:p.Cys1265=
ENST00000316623.9:c.3795T=	ENSP00000325527.5:p.Cys1265=
ENST00000537463.6:c.637-9211T=	ENSP00000440294.2:n.637-9211T=
NM_000138.4:c.3795T= , LRG_778t1:c.3795T=	NP_000129.3:p.Cys1265=
NM_000138.5:c.3795T= MANE Select	NP_000129.3:p.Cys1265=