Canonical Allele Identifier: CA2175486612

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411257A= , CM000677.2:g.48411257A=	GRCh38
NC_000015.9:g.48703454A= , CM000677.1:g.48703454A=	GRCh37
NC_000015.8:g.46490746A=	NCBI36
NG_008805.2:g.239532T= , LRG_778:g.239532T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1157T=	ENSP00000453958.2:n.*1157T=
ENST00000674301.2:c.*1862T=	ENSP00000501333.2:n.*1862T=
ENST00000682158.1:n.1730T=
ENST00000682170.1:n.2530T=
ENST00000682767.1:n.1646T=
ENST00000316623.10:c.8349T= MANE Select	ENSP00000325527.5:p.Ala2783=
ENST00000674301.1:c.3515T=	ENSP00000501333.1:n.3515T=
ENST00000316623.9:c.8349T=	ENSP00000325527.5:p.Ala2783=
ENST00000559133.5:c.3718T=
ENST00000561429.1:n.604T=
NM_000138.4:c.8349T= , LRG_778t1:c.8349T=	NP_000129.3:p.Ala2783=
NM_000138.5:c.8349T= MANE Select	NP_000129.3:p.Ala2783=