Canonical Allele Identifier: CA059994

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411220C>T , CM000677.2:g.48411220C>T	GRCh38
NC_000015.9:g.48703417C>T , CM000677.1:g.48703417C>T	GRCh37
NC_000015.8:g.46490709C>T	NCBI36
NG_008805.2:g.239569G>A , LRG_778:g.239569G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.8386G>A MANE Select	NP_000129.3:p.Glu2796Lys
ENST00000316623.10:c.8386G>A MANE Select	ENSP00000325527.5:p.Glu2796Lys
NM_000138.4:c.8386G>A , LRG_778t1:c.8386G>A	NP_000129.3:p.Glu2796Lys
ENST00000316623.9:c.8386G>A	ENSP00000325527.5:p.Glu2796Lys
ENST00000559133.5:c.3755G>A
ENST00000559133.6:c.*1194G>A	ENSP00000453958.2:n.*1194G>A
ENST00000561429.1:n.641G>A
ENST00000674301.1:c.3552G>A	ENSP00000501333.1:n.3552G>A
ENST00000674301.2:c.*1899G>A	ENSP00000501333.2:n.*1899G>A
ENST00000682158.1:n.1767G>A
ENST00000682170.1:n.2567G>A
ENST00000682767.1:n.1683G>A