Canonical Allele Identifier: CA16609287

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48463150C>T , CM000677.2:g.48463150C>T	GRCh38
NC_000015.9:g.48755347C>T , CM000677.1:g.48755347C>T	GRCh37
NC_000015.8:g.46542639C>T	NCBI36
NG_008805.2:g.187639G>A , LRG_778:g.187639G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.5156G>A MANE Select	NP_000129.3:p.Cys1719Tyr
ENST00000316623.10:c.5156G>A MANE Select	ENSP00000325527.5:p.Cys1719Tyr
NM_000138.4:c.5156G>A , LRG_778t1:c.5156G>A	NP_000129.3:p.Cys1719Tyr
ENST00000316623.9:c.5156G>A	ENSP00000325527.5:p.Cys1719Tyr
ENST00000537463.6:c.*919G>A	ENSP00000440294.2:n.*919G>A
ENST00000559133.5:c.463G>A
ENST00000559133.6:c.5156G>A	ENSP00000453958.2:p.Cys1719Tyr
ENST00000674301.1:c.155G>A	ENSP00000501333.1:p.Cys52Tyr
ENST00000674301.2:c.5156G>A	ENSP00000501333.2:p.Cys1719Tyr
ENST00000684448.1:n.3830G>A