Canonical Allele Identifier: CA392318869
Gene: FBN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48411129G>A , CM000677.2:g.48411129G>A GRCh38
NC_000015.9:g.48703326G>A , CM000677.1:g.48703326G>A GRCh37
NC_000015.8:g.46490618G>A NCBI36
NG_008805.2:g.239660C>T , LRG_778:g.239660C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1285C>T ENSP00000453958.2:n.*1285C>T
ENST00000674301.2:c.*1990C>T ENSP00000501333.2:n.*1990C>T
ENST00000682158.1:n.1858C>T
ENST00000682170.1:n.2658C>T
ENST00000682767.1:n.1774C>T
ENST00000316623.10:c.8477C>T MANE Select ENSP00000325527.5:p.Thr2826Ile
ENST00000674301.1:c.3643C>T ENSP00000501333.1:n.3643C>T
ENST00000316623.9:c.8477C>T ENSP00000325527.5:p.Thr2826Ile
ENST00000559133.5:c.3846C>T
NM_000138.4:c.8477C>T , LRG_778t1:c.8477C>T NP_000129.3:p.Thr2826Ile
NM_000138.5:c.8477C>T MANE Select NP_000129.3:p.Thr2826Ile