Canonical Allele Identifier: CA392326215

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422059T>C , CM000677.2:g.48422059T>C	GRCh38
NC_000015.9:g.48714256T>C , CM000677.1:g.48714256T>C	GRCh37
NC_000015.8:g.46501548T>C	NCBI36
NG_008805.2:g.228730A>G , LRG_778:g.228730A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7463A>G MANE Select	NP_000129.3:p.Glu2488Gly
ENST00000316623.10:c.7463A>G MANE Select	ENSP00000325527.5:p.Glu2488Gly
NM_000138.4:c.7463A>G , LRG_778t1:c.7463A>G	NP_000129.3:p.Glu2488Gly
ENST00000316623.9:c.7463A>G	ENSP00000325527.5:p.Glu2488Gly
ENST00000559133.5:c.2832A>G
ENST00000559133.6:c.*271A>G	ENSP00000453958.2:n.*271A>G
ENST00000674301.1:c.2629A>G	ENSP00000501333.1:n.2629A>G
ENST00000674301.2:c.*976A>G	ENSP00000501333.2:n.*976A>G
ENST00000682170.1:n.1644A>G
ENST00000682767.1:n.760A>G