Canonical Allele Identifier: CA392329919
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48427683C>T , CM000677.2:g.48427683C>T GRCh38
NC_000015.9:g.48719880C>T , CM000677.1:g.48719880C>T GRCh37
NC_000015.8:g.46507172C>T NCBI36
NG_008805.2:g.223106G>A , LRG_778:g.223106G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.7150G>A ENSP00000453958.2:p.Ala2384Thr
ENST00000674301.2:c.*601G>A ENSP00000501333.2:n.*601G>A
ENST00000682170.1:n.1269G>A
ENST00000682767.1:n.385G>A
ENST00000316623.10:c.7088G>A MANE Select ENSP00000325527.5:p.Cys2363Tyr
ENST00000674301.1:c.2254G>A ENSP00000501333.1:n.2254G>A
ENST00000316623.9:c.7088G>A ENSP00000325527.5:p.Cys2363Tyr
ENST00000559133.5:c.2457G>A
NM_000138.4:c.7088G>A , LRG_778t1:c.7088G>A NP_000129.3:p.Cys2363Tyr
NM_000138.5:c.7088G>A MANE Select NP_000129.3:p.Cys2363Tyr
Search 100 bp 5'
Search 100 bp 3'