Canonical Allele Identifier: CA392332127

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430703T>C , CM000677.2:g.48430703T>C	GRCh38
NC_000015.9:g.48722900T>C , CM000677.1:g.48722900T>C	GRCh37
NC_000015.8:g.46510192T>C	NCBI36
NG_008805.2:g.220086A>G , LRG_778:g.220086A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6839A>G MANE Select	NP_000129.3:p.Tyr2280Cys
ENST00000316623.10:c.6839A>G MANE Select	ENSP00000325527.5:p.Tyr2280Cys
NM_000138.4:c.6839A>G , LRG_778t1:c.6839A>G	NP_000129.3:p.Tyr2280Cys
ENST00000316623.9:c.6839A>G	ENSP00000325527.5:p.Tyr2280Cys
ENST00000559133.5:c.2146A>G
ENST00000559133.6:c.6839A>G	ENSP00000453958.2:p.Tyr2280Cys
ENST00000560720.1:n.126A>G
ENST00000674301.1:c.1943A>G	ENSP00000501333.1:n.1943A>G
ENST00000674301.2:c.*290A>G	ENSP00000501333.2:n.*290A>G
ENST00000682170.1:n.448A>G