Canonical Allele Identifier: CA2175516381

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48488493T= , CM000677.2:g.48488493T=	GRCh38
NC_000015.9:g.48780690T= , CM000677.1:g.48780690T=	GRCh37
NC_000015.8:g.46567982T=	NCBI36
NG_008805.2:g.162296A= , LRG_778:g.162296A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3083A=	ENSP00000453958.2:p.Asp1028=
ENST00000674301.2:c.3083A=	ENSP00000501333.2:p.Asp1028=
ENST00000684448.1:n.1757A=
ENST00000316623.10:c.3083A= MANE Select	ENSP00000325527.5:p.Asp1028=
ENST00000316623.9:c.3083A=	ENSP00000325527.5:p.Asp1028=
ENST00000537463.6:c.637-13843A=	ENSP00000440294.2:n.637-13843A=
NM_000138.4:c.3083A= , LRG_778t1:c.3083A=	NP_000129.3:p.Asp1028=
NM_000138.5:c.3083A= MANE Select	NP_000129.3:p.Asp1028=