Canonical Allele Identifier: CA392336920
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48437785C>A , CM000677.2:g.48437785C>A GRCh38
NC_000015.9:g.48729982C>A , CM000677.1:g.48729982C>A GRCh37
NC_000015.8:g.46517274C>A NCBI36
NG_008805.2:g.213004G>T , LRG_778:g.213004G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6296G>T ENSP00000453958.2:p.Cys2099Phe
ENST00000674301.2:c.6296G>T ENSP00000501333.2:p.Cys2099Phe
ENST00000316623.10:c.6296G>T MANE Select ENSP00000325527.5:p.Cys2099Phe
ENST00000674301.1:c.1295G>T ENSP00000501333.1:p.Cys432Phe
ENST00000316623.9:c.6296G>T ENSP00000325527.5:p.Cys2099Phe
ENST00000537463.6:c.*2059G>T ENSP00000440294.2:n.*2059G>T
ENST00000559133.5:c.1603G>T
ENST00000560820.1:n.416G>T
NM_000138.4:c.6296G>T , LRG_778t1:c.6296G>T NP_000129.3:p.Cys2099Phe
NM_000138.5:c.6296G>T MANE Select NP_000129.3:p.Cys2099Phe
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