Canonical Allele Identifier: CA392329926

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427684A>C , CM000677.2:g.48427684A>C	GRCh38
NC_000015.9:g.48719881A>C , CM000677.1:g.48719881A>C	GRCh37
NC_000015.8:g.46507173A>C	NCBI36
NG_008805.2:g.223105T>G , LRG_778:g.223105T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7087T>G MANE Select	NP_000129.3:p.Cys2363Gly
ENST00000316623.10:c.7087T>G MANE Select	ENSP00000325527.5:p.Cys2363Gly
NM_000138.4:c.7087T>G , LRG_778t1:c.7087T>G	NP_000129.3:p.Cys2363Gly
ENST00000316623.9:c.7087T>G	ENSP00000325527.5:p.Cys2363Gly
ENST00000559133.5:c.2456T>G
ENST00000559133.6:c.7149T>G	ENSP00000453958.2:p.Asn2383Lys
ENST00000674301.1:c.2253T>G	ENSP00000501333.1:n.2253T>G
ENST00000674301.2:c.*600T>G	ENSP00000501333.2:n.*600T>G
ENST00000682170.1:n.1268T>G
ENST00000682767.1:n.384T>G