Canonical Allele Identifier: CA017288

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421653C>T , CM000677.2:g.48421653C>T	GRCh38
NC_000015.9:g.48713850C>T , CM000677.1:g.48713850C>T	GRCh37
NC_000015.8:g.46501142C>T	NCBI36
NG_008805.2:g.229136G>A , LRG_778:g.229136G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7604G>A MANE Select	NP_000129.3:p.Cys2535Tyr
ENST00000316623.10:c.7604G>A MANE Select	ENSP00000325527.5:p.Cys2535Tyr
NM_000138.4:c.7604G>A , LRG_778t1:c.7604G>A	NP_000129.3:p.Cys2535Tyr
ENST00000316623.9:c.7604G>A	ENSP00000325527.5:p.Cys2535Tyr
ENST00000559133.5:c.2973G>A
ENST00000559133.6:c.*412G>A	ENSP00000453958.2:n.*412G>A
ENST00000674301.1:c.2770G>A	ENSP00000501333.1:n.2770G>A
ENST00000674301.2:c.*1117G>A	ENSP00000501333.2:n.*1117G>A
ENST00000682170.1:n.1785G>A
ENST00000682767.1:n.901G>A