Canonical Allele Identifier: CA392327517

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425375A>G , CM000677.2:g.48425375A>G	GRCh38
NC_000015.9:g.48717572A>G , CM000677.1:g.48717572A>G	GRCh37
NC_000015.8:g.46504864A>G	NCBI36
NG_008805.2:g.225414T>C , LRG_778:g.225414T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7447T>C MANE Select	NP_000129.3:p.Cys2483Arg
ENST00000316623.10:c.7447T>C MANE Select	ENSP00000325527.5:p.Cys2483Arg
NM_000138.4:c.7447T>C , LRG_778t1:c.7447T>C	NP_000129.3:p.Cys2483Arg
ENST00000316623.9:c.7447T>C	ENSP00000325527.5:p.Cys2483Arg
ENST00000559133.5:c.2816T>C
ENST00000559133.6:c.*255T>C	ENSP00000453958.2:n.*255T>C
ENST00000674301.1:c.2613T>C	ENSP00000501333.1:n.2613T>C
ENST00000674301.2:c.*960T>C	ENSP00000501333.2:n.*960T>C
ENST00000682170.1:n.1628T>C
ENST00000682767.1:n.744T>C