Canonical Allele Identifier: CA2175497539

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428157A= , CM000677.2:g.48428157A=	GRCh38
NC_000015.9:g.48720354A= , CM000677.1:g.48720354A=	GRCh37
NC_000015.8:g.46507646A=	NCBI36
NG_008805.2:g.222632T= , LRG_778:g.222632T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6997+189T=	ENSP00000453958.2:n.6997+189T=
ENST00000674301.2:c.*448+189T=	ENSP00000501333.2:n.*448+189T=
ENST00000682170.1:n.795T=
ENST00000682767.1:n.232+189T=
ENST00000316623.10:c.6997+189T= MANE Select	ENSP00000325527.5:n.6997+189T=
ENST00000674301.1:c.2101+189T=	ENSP00000501333.1:n.2101+189T=
ENST00000316623.9:c.6997+189T=	ENSP00000325527.5:n.6997+189T=
ENST00000559133.5:c.2304+189T=
ENST00000560720.1:n.473T=
NM_000138.4:c.6997+189T= , LRG_778t1:c.6997+189T=	NP_000129.3:n.6997+189T=
NM_000138.5:c.6997+189T= MANE Select	NP_000129.3:n.6997+189T=