Canonical Allele Identifier: CA490017720

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427757G>A , CM000677.2:g.48427757G>A	GRCh38
NC_000015.9:g.48719954G>A , CM000677.1:g.48719954G>A	GRCh37
NC_000015.8:g.46507246G>A	NCBI36
NG_008805.2:g.223032C>T , LRG_778:g.223032C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.7076C>T	ENSP00000453958.2:p.Thr2359Ile
ENST00000674301.2:c.*527C>T	ENSP00000501333.2:n.*527C>T
ENST00000682170.1:n.1195C>T
ENST00000682767.1:n.311C>T
ENST00000316623.10:c.7014C>T MANE Select	ENSP00000325527.5:p.Tyr2338=
ENST00000674301.1:c.2180C>T	ENSP00000501333.1:n.2180C>T
ENST00000316623.9:c.7014C>T	ENSP00000325527.5:p.Tyr2338=
ENST00000559133.5:c.2383C>T
NM_000138.4:c.7014C>T , LRG_778t1:c.7014C>T	NP_000129.3:p.Tyr2338=
NM_000138.5:c.7014C>T MANE Select	NP_000129.3:p.Tyr2338=