Canonical Allele Identifier: CA392327515

Gene: FBN1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7447T>G MANE Select	NP_000129.3:p.Cys2483Gly
ENST00000316623.10:c.7447T>G MANE Select	ENSP00000325527.5:p.Cys2483Gly
NM_000138.4:c.7447T>G , LRG_778t1:c.7447T>G	NP_000129.3:p.Cys2483Gly
ENST00000316623.9:c.7447T>G	ENSP00000325527.5:p.Cys2483Gly
ENST00000559133.5:c.2816T>G
ENST00000559133.6:c.*255T>G	ENSP00000453958.2:n.*255T>G
ENST00000674301.1:c.2613T>G	ENSP00000501333.1:n.2613T>G
ENST00000674301.2:c.*960T>G	ENSP00000501333.2:n.*960T>G
ENST00000682170.1:n.1628T>G
ENST00000682767.1:n.744T>G