Canonical Allele Identifier: CA269530749

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441829C>T , CM000677.2:g.48441829C>T	GRCh38
NC_000015.9:g.48734026C>T , CM000677.1:g.48734026C>T	GRCh37
NC_000015.8:g.46521318C>T	NCBI36
NG_008805.2:g.208960G>A , LRG_778:g.208960G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6055G>A MANE Select	NP_000129.3:p.Glu2019Lys
ENST00000316623.10:c.6055G>A MANE Select	ENSP00000325527.5:p.Glu2019Lys
NM_000138.4:c.6055G>A , LRG_778t1:c.6055G>A	NP_000129.3:p.Glu2019Lys
ENST00000316623.9:c.6055G>A	ENSP00000325527.5:p.Glu2019Lys
ENST00000537463.6:c.*1818G>A	ENSP00000440294.2:n.*1818G>A
ENST00000559133.5:c.1362G>A
ENST00000559133.6:c.6055G>A	ENSP00000453958.2:p.Glu2019Lys
ENST00000560820.1:n.175G>A
ENST00000674301.1:c.1054G>A	ENSP00000501333.1:p.Glu352Lys
ENST00000674301.2:c.6055G>A	ENSP00000501333.2:p.Glu2019Lys