Canonical Allele Identifier: CA392329073

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427575T>C , CM000677.2:g.48427575T>C	GRCh38
NC_000015.9:g.48719772T>C , CM000677.1:g.48719772T>C	GRCh37
NC_000015.8:g.46507064T>C	NCBI36
NG_008805.2:g.223214A>G , LRG_778:g.223214A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7196A>G MANE Select	NP_000129.3:p.Asn2399Ser
ENST00000316623.10:c.7196A>G MANE Select	ENSP00000325527.5:p.Asn2399Ser
NM_000138.4:c.7196A>G , LRG_778t1:c.7196A>G	NP_000129.3:p.Asn2399Ser
ENST00000316623.9:c.7196A>G	ENSP00000325527.5:p.Asn2399Ser
ENST00000559133.5:c.2565A>G
ENST00000559133.6:c.*4A>G	ENSP00000453958.2:n.*4A>G
ENST00000674301.1:c.2362A>G	ENSP00000501333.1:n.2362A>G
ENST00000674301.2:c.*709A>G	ENSP00000501333.2:n.*709A>G
ENST00000682170.1:n.1377A>G
ENST00000682767.1:n.493A>G