Canonical Allele Identifier: CA392339710

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48444586A>T , CM000677.2:g.48444586A>T	GRCh38
NC_000015.9:g.48736783A>T , CM000677.1:g.48736783A>T	GRCh37
NC_000015.8:g.46524075A>T	NCBI36
NG_008805.2:g.206203T>A , LRG_778:g.206203T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.5992T>A MANE Select	NP_000129.3:p.Cys1998Ser
ENST00000316623.10:c.5992T>A MANE Select	ENSP00000325527.5:p.Cys1998Ser
NM_000138.4:c.5992T>A , LRG_778t1:c.5992T>A	NP_000129.3:p.Cys1998Ser
ENST00000316623.9:c.5992T>A	ENSP00000325527.5:p.Cys1998Ser
ENST00000537463.6:c.*1755T>A	ENSP00000440294.2:n.*1755T>A
ENST00000559133.5:c.1299T>A
ENST00000559133.6:c.5992T>A	ENSP00000453958.2:p.Cys1998Ser
ENST00000560820.1:n.112T>A
ENST00000674301.1:c.991T>A	ENSP00000501333.1:p.Cys331Ser
ENST00000674301.2:c.5992T>A	ENSP00000501333.2:p.Cys1998Ser
ENST00000684448.1:n.4666T>A