Canonical Allele Identifier: CA392335204
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48434692C>T , CM000677.2:g.48434692C>T GRCh38
NC_000015.9:g.48726889C>T , CM000677.1:g.48726889C>T GRCh37
NC_000015.8:g.46514181C>T NCBI36
NG_008805.2:g.216097G>A , LRG_778:g.216097G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6518G>A ENSP00000453958.2:p.Gly2173Asp
ENST00000674301.2:c.6518G>A ENSP00000501333.2:p.Gly2173Asp
ENST00000682170.1:n.127G>A
ENST00000316623.10:c.6518G>A MANE Select ENSP00000325527.5:p.Gly2173Asp
ENST00000674301.1:c.1517G>A ENSP00000501333.1:p.Gly506Asp
ENST00000316623.9:c.6518G>A ENSP00000325527.5:p.Gly2173Asp
ENST00000537463.6:c.*2281G>A ENSP00000440294.2:n.*2281G>A
ENST00000559133.5:c.1825G>A
NM_000138.4:c.6518G>A , LRG_778t1:c.6518G>A NP_000129.3:p.Gly2173Asp
NM_000138.5:c.6518G>A MANE Select NP_000129.3:p.Gly2173Asp
Search 100 bp 5'
Search 100 bp 3'