Canonical Allele Identifier: CA392340230

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445493A>T , CM000677.2:g.48445493A>T	GRCh38
NC_000015.9:g.48737690A>T , CM000677.1:g.48737690A>T	GRCh37
NC_000015.8:g.46524982A>T	NCBI36
NG_008805.2:g.205296T>A , LRG_778:g.205296T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.5800T>A MANE Select	NP_000129.3:p.Cys1934Ser
ENST00000316623.10:c.5800T>A MANE Select	ENSP00000325527.5:p.Cys1934Ser
NM_000138.4:c.5800T>A , LRG_778t1:c.5800T>A	NP_000129.3:p.Cys1934Ser
ENST00000316623.9:c.5800T>A	ENSP00000325527.5:p.Cys1934Ser
ENST00000537463.6:c.*1563T>A	ENSP00000440294.2:n.*1563T>A
ENST00000559133.5:c.1107T>A
ENST00000559133.6:c.5800T>A	ENSP00000453958.2:p.Cys1934Ser
ENST00000674301.1:c.799T>A	ENSP00000501333.1:p.Cys267Ser
ENST00000674301.2:c.5800T>A	ENSP00000501333.2:p.Cys1934Ser
ENST00000684448.1:n.4474T>A