Canonical Allele Identifier: CA392328485

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425742C>T , CM000677.2:g.48425742C>T	GRCh38
NC_000015.9:g.48717939C>T , CM000677.1:g.48717939C>T	GRCh37
NC_000015.8:g.46505231C>T	NCBI36
NG_008805.2:g.225047G>A , LRG_778:g.225047G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7327G>A MANE Select	NP_000129.3:p.Val2443Ile
ENST00000316623.10:c.7327G>A MANE Select	ENSP00000325527.5:p.Val2443Ile
NM_000138.4:c.7327G>A , LRG_778t1:c.7327G>A	NP_000129.3:p.Val2443Ile
ENST00000316623.9:c.7327G>A	ENSP00000325527.5:p.Val2443Ile
ENST00000559133.5:c.2696G>A
ENST00000559133.6:c.*135G>A	ENSP00000453958.2:n.*135G>A
ENST00000674301.1:c.2493G>A	ENSP00000501333.1:n.2493G>A
ENST00000674301.2:c.*840G>A	ENSP00000501333.2:n.*840G>A
ENST00000682170.1:n.1508G>A
ENST00000682767.1:n.624G>A