Canonical Allele Identifier: CA2175485959

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410745T= , CM000677.2:g.48410745T=	GRCh38
NC_000015.9:g.48702942T= , CM000677.1:g.48702942T=	GRCh37
NC_000015.8:g.46490234T=	NCBI36
NG_008805.2:g.240044A= , LRG_778:g.240044A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*1669A=	ENSP00000453958.2:n.*1669A=
ENST00000682158.1:n.2242A=
ENST00000682170.1:n.3042A=
ENST00000682767.1:n.2158A=
ENST00000316623.10:c.*245A= MANE Select	ENSP00000325527.5:n.*245A=
ENST00000316623.9:c.*245A=	ENSP00000325527.5:n.*245A=
ENST00000559133.5:c.4230A=
NM_000138.4:c.*245A= , LRG_778t1:c.*245A=	NP_000129.3:n.*245A=
NM_000138.5:c.*245A= MANE Select	NP_000129.3:n.*245A=