Canonical Allele Identifier: CA2175465136

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422289A= , CM000677.2:g.48422289A=	GRCh38
NC_000015.9:g.48714486A= , CM000677.1:g.48714486A=	GRCh37
NC_000015.8:g.46501778A=	NCBI36
NG_008805.2:g.228500T= , LRG_778:g.228500T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*262-221T=	ENSP00000453958.2:n.*262-221T=
ENST00000674301.2:c.*967-221T=	ENSP00000501333.2:n.*967-221T=
ENST00000682170.1:n.1635-221T=
ENST00000682767.1:n.751-221T=
ENST00000316623.10:c.7454-221T= MANE Select	ENSP00000325527.5:n.7454-221T=
ENST00000674301.1:c.2620-221T=	ENSP00000501333.1:n.2620-221T=
ENST00000316623.9:c.7454-221T=	ENSP00000325527.5:n.7454-221T=
ENST00000559133.5:c.2823-221T=
NM_000138.4:c.7454-221T= , LRG_778t1:c.7454-221T=	NP_000129.3:n.7454-221T=
NM_000138.5:c.7454-221T= MANE Select	NP_000129.3:n.7454-221T=