Canonical Allele Identifier: CA2175486797

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411352T= , CM000677.2:g.48411352T=	GRCh38
NC_000015.9:g.48703549T= , CM000677.1:g.48703549T=	GRCh37
NC_000015.8:g.46490841T=	NCBI36
NG_008805.2:g.239437A= , LRG_778:g.239437A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1062A=	ENSP00000453958.2:n.*1062A=
ENST00000674301.2:c.*1767A=	ENSP00000501333.2:n.*1767A=
ENST00000682158.1:n.1635A=
ENST00000682170.1:n.2435A=
ENST00000682767.1:n.1551A=
ENST00000316623.10:c.8254A= MANE Select	ENSP00000325527.5:p.Ser2752=
ENST00000674301.1:c.3420A=	ENSP00000501333.1:n.3420A=
ENST00000316623.9:c.8254A=	ENSP00000325527.5:p.Ser2752=
ENST00000559133.5:c.3623A=
ENST00000561429.1:n.509A=
NM_000138.4:c.8254A= , LRG_778t1:c.8254A=	NP_000129.3:p.Ser2752=
NM_000138.5:c.8254A= MANE Select	NP_000129.3:p.Ser2752=