Canonical Allele Identifier: CA392325785

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421675A>C , CM000677.2:g.48421675A>C	GRCh38
NC_000015.9:g.48713872A>C , CM000677.1:g.48713872A>C	GRCh37
NC_000015.8:g.46501164A>C	NCBI36
NG_008805.2:g.229114T>G , LRG_778:g.229114T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7582T>G MANE Select	NP_000129.3:p.Cys2528Gly
ENST00000316623.10:c.7582T>G MANE Select	ENSP00000325527.5:p.Cys2528Gly
NM_000138.4:c.7582T>G , LRG_778t1:c.7582T>G	NP_000129.3:p.Cys2528Gly
ENST00000316623.9:c.7582T>G	ENSP00000325527.5:p.Cys2528Gly
ENST00000559133.5:c.2951T>G
ENST00000559133.6:c.*390T>G	ENSP00000453958.2:n.*390T>G
ENST00000674301.1:c.2748T>G	ENSP00000501333.1:n.2748T>G
ENST00000674301.2:c.*1095T>G	ENSP00000501333.2:n.*1095T>G
ENST00000682170.1:n.1763T>G
ENST00000682767.1:n.879T>G