Canonical Allele Identifier: CA392325781

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421673G>T , CM000677.2:g.48421673G>T	GRCh38
NC_000015.9:g.48713870G>T , CM000677.1:g.48713870G>T	GRCh37
NC_000015.8:g.46501162G>T	NCBI36
NG_008805.2:g.229116C>A , LRG_778:g.229116C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7584C>A MANE Select	NP_000129.3:p.Cys2528Ter
ENST00000316623.10:c.7584C>A MANE Select	ENSP00000325527.5:p.Cys2528Ter
NM_000138.4:c.7584C>A , LRG_778t1:c.7584C>A	NP_000129.3:p.Cys2528Ter
ENST00000316623.9:c.7584C>A	ENSP00000325527.5:p.Cys2528Ter
ENST00000559133.5:c.2953C>A
ENST00000559133.6:c.*392C>A	ENSP00000453958.2:n.*392C>A
ENST00000674301.1:c.2750C>A	ENSP00000501333.1:n.2750C>A
ENST00000674301.2:c.*1097C>A	ENSP00000501333.2:n.*1097C>A
ENST00000682170.1:n.1765C>A
ENST00000682767.1:n.881C>A