Canonical Allele Identifier: CA2175486100

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411013T= , CM000677.2:g.48411013T=	GRCh38
NC_000015.9:g.48703210T= , CM000677.1:g.48703210T=	GRCh37
NC_000015.8:g.46490502T=	NCBI36
NG_008805.2:g.239776A= , LRG_778:g.239776A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*1401A=	ENSP00000453958.2:n.*1401A=
ENST00000682158.1:n.1974A=
ENST00000682170.1:n.2774A=
ENST00000682767.1:n.1890A=
ENST00000316623.10:c.8593A= MANE Select	ENSP00000325527.5:p.Lys2865=
ENST00000316623.9:c.8593A=	ENSP00000325527.5:p.Lys2865=
ENST00000559133.5:c.3962A=
NM_000138.4:c.8593A= , LRG_778t1:c.8593A=	NP_000129.3:p.Lys2865=
NM_000138.5:c.8593A= MANE Select	NP_000129.3:p.Lys2865=