Canonical Allele Identifier: CA269521842

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428391A>G , CM000677.2:g.48428391A>G	GRCh38
NC_000015.9:g.48720588A>G , CM000677.1:g.48720588A>G	GRCh37
NC_000015.8:g.46507880A>G	NCBI36
NG_008805.2:g.222398T>C , LRG_778:g.222398T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6952T>C MANE Select	NP_000129.3:p.Cys2318Arg
ENST00000316623.10:c.6952T>C MANE Select	ENSP00000325527.5:p.Cys2318Arg
NM_000138.4:c.6952T>C , LRG_778t1:c.6952T>C	NP_000129.3:p.Cys2318Arg
ENST00000316623.9:c.6952T>C	ENSP00000325527.5:p.Cys2318Arg
ENST00000559133.5:c.2259T>C
ENST00000559133.6:c.6952T>C	ENSP00000453958.2:p.Cys2318Arg
ENST00000560720.1:n.239T>C
ENST00000674301.1:c.2056T>C	ENSP00000501333.1:n.2056T>C
ENST00000674301.2:c.*403T>C	ENSP00000501333.2:n.*403T>C
ENST00000682170.1:n.561T>C
ENST00000682767.1:n.187T>C