Canonical Allele Identifier: CA2175492634

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445454A= , CM000677.2:g.48445454A=	GRCh38
NC_000015.9:g.48737651A= , CM000677.1:g.48737651A=	GRCh37
NC_000015.8:g.46524943A=	NCBI36
NG_008805.2:g.205335T= , LRG_778:g.205335T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5839T=	ENSP00000453958.2:p.Cys1947=
ENST00000674301.2:c.5839T=	ENSP00000501333.2:p.Cys1947=
ENST00000684448.1:n.4513T=
ENST00000316623.10:c.5839T= MANE Select	ENSP00000325527.5:p.Cys1947=
ENST00000674301.1:c.838T=	ENSP00000501333.1:p.Cys280=
ENST00000316623.9:c.5839T=	ENSP00000325527.5:p.Cys1947=
ENST00000537463.6:c.*1602T=	ENSP00000440294.2:n.*1602T=
ENST00000559133.5:c.1146T=
NM_000138.4:c.5839T= , LRG_778t1:c.5839T=	NP_000129.3:p.Cys1947=
NM_000138.5:c.5839T= MANE Select	NP_000129.3:p.Cys1947=