Canonical Allele Identifier: CA392329174

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427588C>T , CM000677.2:g.48427588C>T	GRCh38
NC_000015.9:g.48719785C>T , CM000677.1:g.48719785C>T	GRCh37
NC_000015.8:g.46507077C>T	NCBI36
NG_008805.2:g.223201G>A , LRG_778:g.223201G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7183G>A MANE Select	NP_000129.3:p.Gly2395Arg
ENST00000316623.10:c.7183G>A MANE Select	ENSP00000325527.5:p.Gly2395Arg
NM_000138.4:c.7183G>A , LRG_778t1:c.7183G>A	NP_000129.3:p.Gly2395Arg
ENST00000316623.9:c.7183G>A	ENSP00000325527.5:p.Gly2395Arg
ENST00000559133.5:c.2552G>A
ENST00000559133.6:c.7245G>A	ENSP00000453958.2:p.Glu2415=
ENST00000674301.1:c.2349G>A	ENSP00000501333.1:n.2349G>A
ENST00000674301.2:c.*696G>A	ENSP00000501333.2:n.*696G>A
ENST00000682170.1:n.1364G>A
ENST00000682767.1:n.480G>A