Canonical Allele Identifier: CA2841790664

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48446606A>T , CM000677.2:g.48446606A>T	GRCh38
NC_000015.9:g.48738803A>T , CM000677.1:g.48738803A>T	GRCh37
NC_000015.8:g.46526095A>T	NCBI36
NG_008805.2:g.204183T>A , LRG_778:g.204183T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5788+100T>A	ENSP00000453958.2:n.5788+100T>A
ENST00000674301.2:c.5788+100T>A	ENSP00000501333.2:n.5788+100T>A
ENST00000684448.1:n.4462+100T>A
ENST00000316623.10:c.5788+100T>A MANE Select	ENSP00000325527.5:n.5788+100T>A
ENST00000674301.1:c.787+100T>A	ENSP00000501333.1:n.787+100T>A
ENST00000316623.9:c.5788+100T>A	ENSP00000325527.5:n.5788+100T>A
ENST00000537463.6:c.*1551+100T>A	ENSP00000440294.2:n.*1551+100T>A
ENST00000559133.5:c.1095+100T>A
NM_000138.4:c.5788+100T>A , LRG_778t1:c.5788+100T>A	NP_000129.3:n.5788+100T>A
NM_000138.5:c.5788+100T>A MANE Select	NP_000129.3:n.5788+100T>A