Canonical Allele Identifier: CA2175488148

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412921C= , CM000677.2:g.48412921C=	GRCh38
NC_000015.9:g.48705118C= , CM000677.1:g.48705118C=	GRCh37
NC_000015.8:g.46492410C=	NCBI36
NG_008805.2:g.237868G= , LRG_778:g.237868G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*860-178G=	ENSP00000453958.2:n.*860-178G=
ENST00000674301.2:c.*1565-178G=	ENSP00000501333.2:n.*1565-178G=
ENST00000682158.1:n.1433-178G=
ENST00000682170.1:n.2233-178G=
ENST00000682767.1:n.1349-178G=
ENST00000316623.10:c.8052-178G= MANE Select	ENSP00000325527.5:n.8052-178G=
ENST00000674301.1:c.3218-178G=	ENSP00000501333.1:n.3218-178G=
ENST00000316623.9:c.8052-178G=	ENSP00000325527.5:n.8052-178G=
ENST00000559133.5:c.3421-178G=
ENST00000561429.1:n.307-178G=
NM_000138.4:c.8052-178G= , LRG_778t1:c.8052-178G=	NP_000129.3:n.8052-178G=
NM_000138.5:c.8052-178G= MANE Select	NP_000129.3:n.8052-178G=