Canonical Allele Identifier: CA392330332
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 495644
ClinVar RCV Id: RCV000590370 RCV000826164
dbSNP Id: rs1555394580
MyVariant Identifiers: chr15:g.48719952C>T (hg19) chr15:g.48427755C>T (hg38)
ERepo: CA392330332/MONDO:0007947/022
PubMed: PMID:12203987 PMID:12203992 PMID:16342915 PMID:24941995
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48427755C>T , CM000677.2:g.48427755C>T GRCh38
NC_000015.9:g.48719952C>T , CM000677.1:g.48719952C>T GRCh37
NC_000015.8:g.46507244C>T NCBI36
NG_008805.2:g.223034G>A , LRG_778:g.223034G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.7078G>A ENSP00000453958.2:p.Ala2360Thr
ENST00000674301.2:c.*529G>A ENSP00000501333.2:n.*529G>A
ENST00000682170.1:n.1197G>A
ENST00000682767.1:n.313G>A
ENST00000316623.10:c.7016G>A MANE Select ENSP00000325527.5:p.Cys2339Tyr
ENST00000674301.1:c.2182G>A ENSP00000501333.1:n.2182G>A
ENST00000316623.9:c.7016G>A ENSP00000325527.5:p.Cys2339Tyr
ENST00000559133.5:c.2385G>A
NM_000138.4:c.7016G>A , LRG_778t1:c.7016G>A NP_000129.3:p.Cys2339Tyr
NM_000138.5:c.7016G>A MANE Select NP_000129.3:p.Cys2339Tyr
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