Canonical Allele Identifier: CA057462

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430707C>T , CM000677.2:g.48430707C>T	GRCh38
NC_000015.9:g.48722904C>T , CM000677.1:g.48722904C>T	GRCh37
NC_000015.8:g.46510196C>T	NCBI36
NG_008805.2:g.220082G>A , LRG_778:g.220082G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6835G>A MANE Select	NP_000129.3:p.Gly2279Arg
ENST00000316623.10:c.6835G>A MANE Select	ENSP00000325527.5:p.Gly2279Arg
NM_000138.4:c.6835G>A , LRG_778t1:c.6835G>A	NP_000129.3:p.Gly2279Arg
ENST00000316623.9:c.6835G>A	ENSP00000325527.5:p.Gly2279Arg
ENST00000559133.5:c.2142G>A
ENST00000559133.6:c.6835G>A	ENSP00000453958.2:p.Gly2279Arg
ENST00000560720.1:n.122G>A
ENST00000674301.1:c.1939G>A	ENSP00000501333.1:n.1939G>A
ENST00000674301.2:c.*286G>A	ENSP00000501333.2:n.*286G>A
ENST00000682170.1:n.444G>A