Canonical Allele Identifier: CA016525
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200195
dbSNP Id: rs373510719

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48434711T>G , CM000677.2:g.48434711T>G GRCh38
NC_000015.9:g.48726908T>G , CM000677.1:g.48726908T>G GRCh37
NC_000015.8:g.46514200T>G NCBI36
NG_008805.2:g.216078A>C , LRG_778:g.216078A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6499A>C ENSP00000453958.2:p.Thr2167Pro
ENST00000674301.2:c.6499A>C ENSP00000501333.2:p.Thr2167Pro
ENST00000682170.1:n.108A>C
ENST00000316623.10:c.6499A>C MANE Select ENSP00000325527.5:p.Thr2167Pro
ENST00000674301.1:c.1498A>C ENSP00000501333.1:p.Thr500Pro
ENST00000316623.9:c.6499A>C ENSP00000325527.5:p.Thr2167Pro
ENST00000537463.6:c.*2262A>C ENSP00000440294.2:n.*2262A>C
ENST00000559133.5:c.1806A>C
NM_000138.4:c.6499A>C , LRG_778t1:c.6499A>C NP_000129.3:p.Thr2167Pro
NM_000138.5:c.6499A>C MANE Select NP_000129.3:p.Thr2167Pro