Canonical Allele Identifier: CA10587803
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 263898
ClinVar RCV Id: RCV000413845 RCV001260318 RCV002310892 RCV002518701 RCV003888667
dbSNP Id: rs886038967
MyVariant Identifiers: chr15:g.48736743C>T (hg19) chr15:g.48444546C>T (hg38)
ERepo: CA10587803/MONDO:0007947/022
PubMed: PMID:21895641
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48444546C>T , CM000677.2:g.48444546C>T GRCh38
NC_000015.9:g.48736743C>T , CM000677.1:g.48736743C>T GRCh37
NC_000015.8:g.46524035C>T NCBI36
NG_008805.2:g.206243G>A , LRG_778:g.206243G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6032G>A ENSP00000453958.2:p.Cys2011Tyr
ENST00000674301.2:c.6032G>A ENSP00000501333.2:p.Cys2011Tyr
ENST00000684448.1:n.4706G>A
ENST00000316623.10:c.6032G>A MANE Select ENSP00000325527.5:p.Cys2011Tyr
ENST00000674301.1:c.1031G>A ENSP00000501333.1:p.Cys344Tyr
ENST00000316623.9:c.6032G>A ENSP00000325527.5:p.Cys2011Tyr
ENST00000537463.6:c.*1795G>A ENSP00000440294.2:n.*1795G>A
ENST00000559133.5:c.1339G>A
ENST00000560820.1:n.152G>A
NM_000138.4:c.6032G>A , LRG_778t1:c.6032G>A NP_000129.3:p.Cys2011Tyr
NM_000138.5:c.6032G>A MANE Select NP_000129.3:p.Cys2011Tyr
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