Canonical Allele Identifier: CA2175485953

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410735C= , CM000677.2:g.48410735C=	GRCh38
NC_000015.9:g.48702932C= , CM000677.1:g.48702932C=	GRCh37
NC_000015.8:g.46490224C=	NCBI36
NG_008805.2:g.240054G= , LRG_778:g.240054G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*1679G=	ENSP00000453958.2:n.*1679G=
ENST00000682158.1:n.2252G=
ENST00000682170.1:n.3052G=
ENST00000682767.1:n.2168G=
ENST00000316623.10:c.*255G= MANE Select	ENSP00000325527.5:n.*255G=
ENST00000316623.9:c.*255G=	ENSP00000325527.5:n.*255G=
ENST00000559133.5:c.4240G=
NM_000138.4:c.*255G= , LRG_778t1:c.*255G=	NP_000129.3:n.*255G=
NM_000138.5:c.*255G= MANE Select	NP_000129.3:n.*255G=