Canonical Allele Identifier: CA392324826

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48420794C>T , CM000677.2:g.48420794C>T	GRCh38
NC_000015.9:g.48712991C>T , CM000677.1:g.48712991C>T	GRCh37
NC_000015.8:g.46500283C>T	NCBI36
NG_008805.2:g.229995G>A , LRG_778:g.229995G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7712G>A MANE Select	NP_000129.3:p.Cys2571Tyr
ENST00000316623.10:c.7712G>A MANE Select	ENSP00000325527.5:p.Cys2571Tyr
NM_000138.4:c.7712G>A , LRG_778t1:c.7712G>A	NP_000129.3:p.Cys2571Tyr
ENST00000316623.9:c.7712G>A	ENSP00000325527.5:p.Cys2571Tyr
ENST00000559133.5:c.3081G>A
ENST00000559133.6:c.*520G>A	ENSP00000453958.2:n.*520G>A
ENST00000674301.1:c.2878G>A	ENSP00000501333.1:n.2878G>A
ENST00000674301.2:c.*1225G>A	ENSP00000501333.2:n.*1225G>A
ENST00000682170.1:n.1893G>A
ENST00000682767.1:n.1009G>A