Canonical Allele Identifier: CA392320060

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703542G>T (hg19) ; chr15:g.48411345G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411345G>T , CM000677.2:g.48411345G>T	GRCh38
NC_000015.9:g.48703542G>T , CM000677.1:g.48703542G>T	GRCh37
NC_000015.8:g.46490834G>T	NCBI36
NG_008805.2:g.239444C>A , LRG_778:g.239444C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1069C>A	ENSP00000453958.2:n.*1069C>A
ENST00000674301.2:c.*1774C>A	ENSP00000501333.2:n.*1774C>A
ENST00000682158.1:n.1642C>A
ENST00000682170.1:n.2442C>A
ENST00000682767.1:n.1558C>A
ENST00000316623.10:c.8261C>A MANE Select	ENSP00000325527.5:p.Ala2754Glu
ENST00000674301.1:c.3427C>A	ENSP00000501333.1:n.3427C>A
ENST00000316623.9:c.8261C>A	ENSP00000325527.5:p.Ala2754Glu
ENST00000559133.5:c.3630C>A
ENST00000561429.1:n.516C>A
NM_000138.4:c.8261C>A , LRG_778t1:c.8261C>A	NP_000129.3:p.Ala2754Glu
NM_000138.5:c.8261C>A MANE Select	NP_000129.3:p.Ala2754Glu