Canonical Allele Identifier: CA490015857

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48714177T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421980T>A , CM000677.2:g.48421980T>A	GRCh38
NC_000015.9:g.48714177T>A , CM000677.1:g.48714177T>A	GRCh37
NC_000015.8:g.46501469T>A	NCBI36
NG_008805.2:g.228809A>T , LRG_778:g.228809A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*350A>T	ENSP00000453958.2:n.*350A>T
ENST00000674301.2:c.*1055A>T	ENSP00000501333.2:n.*1055A>T
ENST00000682170.1:n.1723A>T
ENST00000682767.1:n.839A>T
ENST00000316623.10:c.7542A>T MANE Select	ENSP00000325527.5:p.Gly2514=
ENST00000674301.1:c.2708A>T	ENSP00000501333.1:n.2708A>T
ENST00000316623.9:c.7542A>T	ENSP00000325527.5:p.Gly2514=
ENST00000559133.5:c.2911A>T
NM_000138.4:c.7542A>T , LRG_778t1:c.7542A>T	NP_000129.3:p.Gly2514=
NM_000138.5:c.7542A>T MANE Select	NP_000129.3:p.Gly2514=