Canonical Allele Identifier: CA490017953

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48720664C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428467C>T , CM000677.2:g.48428467C>T	GRCh38
NC_000015.9:g.48720664C>T , CM000677.1:g.48720664C>T	GRCh37
NC_000015.8:g.46507956C>T	NCBI36
NG_008805.2:g.222322G>A , LRG_778:g.222322G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6876G>A	ENSP00000453958.2:p.Glu2292=
ENST00000674301.2:c.*327G>A	ENSP00000501333.2:n.*327G>A
ENST00000682170.1:n.485G>A
ENST00000682767.1:n.111G>A
ENST00000316623.10:c.6876G>A MANE Select	ENSP00000325527.5:p.Glu2292=
ENST00000674301.1:c.1980G>A	ENSP00000501333.1:n.1980G>A
ENST00000316623.9:c.6876G>A	ENSP00000325527.5:p.Glu2292=
ENST00000559133.5:c.2183G>A
ENST00000560720.1:n.163G>A
NM_000138.4:c.6876G>A , LRG_778t1:c.6876G>A	NP_000129.3:p.Glu2292=
NM_000138.5:c.6876G>A MANE Select	NP_000129.3:p.Glu2292=