Canonical Allele Identifier: CA392319130

Gene: FBN1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1224A>G	ENSP00000453958.2:n.*1224A>G
ENST00000674301.2:c.*1929A>G	ENSP00000501333.2:n.*1929A>G
ENST00000682158.1:n.1797A>G
ENST00000682170.1:n.2597A>G
ENST00000682767.1:n.1713A>G
ENST00000316623.10:c.8416A>G MANE Select	ENSP00000325527.5:p.Ile2806Val
ENST00000674301.1:c.3582A>G	ENSP00000501333.1:n.3582A>G
ENST00000316623.9:c.8416A>G	ENSP00000325527.5:p.Ile2806Val
ENST00000559133.5:c.3785A>G
NM_000138.4:c.8416A>G , LRG_778t1:c.8416A>G	NP_000129.3:p.Ile2806Val
NM_000138.5:c.8416A>G MANE Select	NP_000129.3:p.Ile2806Val