Canonical Allele Identifier: CA2175488092

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412761C= , CM000677.2:g.48412761C=	GRCh38
NC_000015.9:g.48704958C= , CM000677.1:g.48704958C=	GRCh37
NC_000015.8:g.46492250C=	NCBI36
NG_008805.2:g.238028G= , LRG_778:g.238028G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*860-18G=	ENSP00000453958.2:n.*860-18G=
ENST00000674301.2:c.*1565-18G=	ENSP00000501333.2:n.*1565-18G=
ENST00000682158.1:n.1433-18G=
ENST00000682170.1:n.2233-18G=
ENST00000682767.1:n.1349-18G=
ENST00000316623.10:c.8052-18G= MANE Select	ENSP00000325527.5:n.8052-18G=
ENST00000674301.1:c.3218-18G=	ENSP00000501333.1:n.3218-18G=
ENST00000316623.9:c.8052-18G=	ENSP00000325527.5:n.8052-18G=
ENST00000559133.5:c.3421-18G=
ENST00000561429.1:n.307-18G=
NM_000138.4:c.8052-18G= , LRG_778t1:c.8052-18G=	NP_000129.3:n.8052-18G=
NM_000138.5:c.8052-18G= MANE Select	NP_000129.3:n.8052-18G=