Canonical Allele Identifier: CA2175516172

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48488373C= , CM000677.2:g.48488373C=	GRCh38
NC_000015.9:g.48780570C= , CM000677.1:g.48780570C=	GRCh37
NC_000015.8:g.46567862C=	NCBI36
NG_008805.2:g.162416G= , LRG_778:g.162416G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3203G=	ENSP00000453958.2:p.Cys1068=
ENST00000674301.2:c.3203G=	ENSP00000501333.2:p.Cys1068=
ENST00000684448.1:n.1877G=
ENST00000316623.10:c.3203G= MANE Select	ENSP00000325527.5:p.Cys1068=
ENST00000316623.9:c.3203G=	ENSP00000325527.5:p.Cys1068=
ENST00000537463.6:c.637-13723G=	ENSP00000440294.2:n.637-13723G=
NM_000138.4:c.3203G= , LRG_778t1:c.3203G=	NP_000129.3:p.Cys1068=
NM_000138.5:c.3203G= MANE Select	NP_000129.3:p.Cys1068=