Canonical Allele Identifier: CA2175493981

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48432870G= , CM000677.2:g.48432870G=	GRCh38
NC_000015.9:g.48725067G= , CM000677.1:g.48725067G=	GRCh37
NC_000015.8:g.46512359G=	NCBI36
NG_008805.2:g.217919C= , LRG_778:g.217919C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6735C=	ENSP00000453958.2:p.Cys2245=
ENST00000674301.2:c.*186C=	ENSP00000501333.2:n.*186C=
ENST00000682170.1:n.344C=
ENST00000316623.10:c.6735C= MANE Select	ENSP00000325527.5:p.Cys2245=
ENST00000674301.1:c.1839C=	ENSP00000501333.1:n.1839C=
ENST00000316623.9:c.6735C=	ENSP00000325527.5:p.Cys2245=
ENST00000537463.6:c.*2498C=	ENSP00000440294.2:n.*2498C=
ENST00000559133.5:c.2042C=
ENST00000560720.1:n.22C=
NM_000138.4:c.6735C= , LRG_778t1:c.6735C=	NP_000129.3:p.Cys2245=
NM_000138.5:c.6735C= MANE Select	NP_000129.3:p.Cys2245=