Canonical Allele Identifier: CA2175488131

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412859C= , CM000677.2:g.48412859C=	GRCh38
NC_000015.9:g.48705056C= , CM000677.1:g.48705056C=	GRCh37
NC_000015.8:g.46492348C=	NCBI36
NG_008805.2:g.237930G= , LRG_778:g.237930G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*860-116G=	ENSP00000453958.2:n.*860-116G=
ENST00000674301.2:c.*1565-116G=	ENSP00000501333.2:n.*1565-116G=
ENST00000682158.1:n.1433-116G=
ENST00000682170.1:n.2233-116G=
ENST00000682767.1:n.1349-116G=
ENST00000316623.10:c.8052-116G= MANE Select	ENSP00000325527.5:n.8052-116G=
ENST00000674301.1:c.3218-116G=	ENSP00000501333.1:n.3218-116G=
ENST00000316623.9:c.8052-116G=	ENSP00000325527.5:n.8052-116G=
ENST00000559133.5:c.3421-116G=
ENST00000561429.1:n.307-116G=
NM_000138.4:c.8052-116G= , LRG_778t1:c.8052-116G=	NP_000129.3:n.8052-116G=
NM_000138.5:c.8052-116G= MANE Select	NP_000129.3:n.8052-116G=