Canonical Allele Identifier: CA392318636
Gene: FBN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48411073G>T , CM000677.2:g.48411073G>T GRCh38
NC_000015.9:g.48703270G>T , CM000677.1:g.48703270G>T GRCh37
NC_000015.8:g.46490562G>T NCBI36
NG_008805.2:g.239716C>A , LRG_778:g.239716C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1341C>A ENSP00000453958.2:n.*1341C>A
ENST00000682158.1:n.1914C>A
ENST00000682170.1:n.2714C>A
ENST00000682767.1:n.1830C>A
ENST00000316623.10:c.8533C>A MANE Select ENSP00000325527.5:p.Leu2845Ile
ENST00000316623.9:c.8533C>A ENSP00000325527.5:p.Leu2845Ile
ENST00000559133.5:c.3902C>A
NM_000138.4:c.8533C>A , LRG_778t1:c.8533C>A NP_000129.3:p.Leu2845Ile
NM_000138.5:c.8533C>A MANE Select NP_000129.3:p.Leu2845Ile