Canonical Allele Identifier: CA392319127

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703387T>A (hg19) ; chr15:g.48411190T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411190T>A , CM000677.2:g.48411190T>A	GRCh38
NC_000015.9:g.48703387T>A , CM000677.1:g.48703387T>A	GRCh37
NC_000015.8:g.46490679T>A	NCBI36
NG_008805.2:g.239599A>T , LRG_778:g.239599A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1224A>T	ENSP00000453958.2:n.*1224A>T
ENST00000674301.2:c.*1929A>T	ENSP00000501333.2:n.*1929A>T
ENST00000682158.1:n.1797A>T
ENST00000682170.1:n.2597A>T
ENST00000682767.1:n.1713A>T
ENST00000316623.10:c.8416A>T MANE Select	ENSP00000325527.5:p.Ile2806Phe
ENST00000674301.1:c.3582A>T	ENSP00000501333.1:n.3582A>T
ENST00000316623.9:c.8416A>T	ENSP00000325527.5:p.Ile2806Phe
ENST00000559133.5:c.3785A>T
NM_000138.4:c.8416A>T , LRG_778t1:c.8416A>T	NP_000129.3:p.Ile2806Phe
NM_000138.5:c.8416A>T MANE Select	NP_000129.3:p.Ile2806Phe