Canonical Allele Identifier: CA2175492469

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425440T= , CM000677.2:g.48425440T=	GRCh38
NC_000015.9:g.48717637T= , CM000677.1:g.48717637T=	GRCh37
NC_000015.8:g.46504929T=	NCBI36
NG_008805.2:g.225349A= , LRG_778:g.225349A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*190A=	ENSP00000453958.2:n.*190A=
ENST00000674301.2:c.*895A=	ENSP00000501333.2:n.*895A=
ENST00000682170.1:n.1563A=
ENST00000682767.1:n.679A=
ENST00000316623.10:c.7382A= MANE Select	ENSP00000325527.5:p.Asn2461=
ENST00000674301.1:c.2548A=	ENSP00000501333.1:n.2548A=
ENST00000316623.9:c.7382A=	ENSP00000325527.5:p.Asn2461=
ENST00000559133.5:c.2751A=
NM_000138.4:c.7382A= , LRG_778t1:c.7382A=	NP_000129.3:p.Asn2461=
NM_000138.5:c.7382A= MANE Select	NP_000129.3:p.Asn2461=