Canonical Allele Identifier: CA392322803

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415604A>T , CM000677.2:g.48415604A>T	GRCh38
NC_000015.9:g.48707801A>T , CM000677.1:g.48707801A>T	GRCh37
NC_000015.8:g.46495093A>T	NCBI36
NG_008805.2:g.235185T>A , LRG_778:g.235185T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7983T>A MANE Select	NP_000129.3:p.Tyr2661Ter
ENST00000316623.10:c.7983T>A MANE Select	ENSP00000325527.5:p.Tyr2661Ter
NM_000138.4:c.7983T>A , LRG_778t1:c.7983T>A	NP_000129.3:p.Tyr2661Ter
ENST00000316623.9:c.7983T>A	ENSP00000325527.5:p.Tyr2661Ter
ENST00000559133.5:c.3352T>A
ENST00000559133.6:c.*791T>A	ENSP00000453958.2:n.*791T>A
ENST00000561429.1:n.238T>A
ENST00000674301.1:c.3149T>A	ENSP00000501333.1:n.3149T>A
ENST00000674301.2:c.*1496T>A	ENSP00000501333.2:n.*1496T>A
ENST00000682158.1:n.1364T>A
ENST00000682170.1:n.2164T>A
ENST00000682767.1:n.1280T>A