Canonical Allele Identifier: CA392319260

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703416T>C (hg19) ; chr15:g.48411219T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411219T>C , CM000677.2:g.48411219T>C	GRCh38
NC_000015.9:g.48703416T>C , CM000677.1:g.48703416T>C	GRCh37
NC_000015.8:g.46490708T>C	NCBI36
NG_008805.2:g.239570A>G , LRG_778:g.239570A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1195A>G	ENSP00000453958.2:n.*1195A>G
ENST00000674301.2:c.*1900A>G	ENSP00000501333.2:n.*1900A>G
ENST00000682158.1:n.1768A>G
ENST00000682170.1:n.2568A>G
ENST00000682767.1:n.1684A>G
ENST00000316623.10:c.8387A>G MANE Select	ENSP00000325527.5:p.Glu2796Gly
ENST00000674301.1:c.3553A>G	ENSP00000501333.1:n.3553A>G
ENST00000316623.9:c.8387A>G	ENSP00000325527.5:p.Glu2796Gly
ENST00000559133.5:c.3756A>G
ENST00000561429.1:n.642A>G
NM_000138.4:c.8387A>G , LRG_778t1:c.8387A>G	NP_000129.3:p.Glu2796Gly
NM_000138.5:c.8387A>G MANE Select	NP_000129.3:p.Glu2796Gly