Canonical Allele Identifier: CA392325105

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421603A>G , CM000677.2:g.48421603A>G	GRCh38
NC_000015.9:g.48713800A>G , CM000677.1:g.48713800A>G	GRCh37
NC_000015.8:g.46501092A>G	NCBI36
NG_008805.2:g.229186T>C , LRG_778:g.229186T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7654T>C MANE Select	NP_000129.3:p.Cys2552Arg
ENST00000316623.10:c.7654T>C MANE Select	ENSP00000325527.5:p.Cys2552Arg
NM_000138.4:c.7654T>C , LRG_778t1:c.7654T>C	NP_000129.3:p.Cys2552Arg
ENST00000316623.9:c.7654T>C	ENSP00000325527.5:p.Cys2552Arg
ENST00000559133.5:c.3023T>C
ENST00000559133.6:c.*462T>C	ENSP00000453958.2:n.*462T>C
ENST00000674301.1:c.2820T>C	ENSP00000501333.1:n.2820T>C
ENST00000674301.2:c.*1167T>C	ENSP00000501333.2:n.*1167T>C
ENST00000682170.1:n.1835T>C
ENST00000682767.1:n.951T>C