Canonical Allele Identifier: CA353648
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 222614
ClinVar RCV Id: RCV001071006
dbSNP Id: rs869025416
MyVariant Identifiers: chr15:g.48712934C>T (hg19) chr15:g.48420737C>T (hg38)
PubMed: PMID:12938084 PMID:19293843 PMID:22913777
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48420737C>T , CM000677.2:g.48420737C>T GRCh38
NC_000015.9:g.48712934C>T , CM000677.1:g.48712934C>T GRCh37
NC_000015.8:g.46500226C>T NCBI36
NG_008805.2:g.230052G>A , LRG_778:g.230052G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.*577G>A ENSP00000453958.2:n.*577G>A
ENST00000674301.2:c.*1282G>A ENSP00000501333.2:n.*1282G>A
ENST00000682170.1:n.1950G>A
ENST00000682767.1:n.1066G>A
ENST00000316623.10:c.7769G>A MANE Select ENSP00000325527.5:p.Cys2590Tyr
ENST00000674301.1:c.2935G>A ENSP00000501333.1:n.2935G>A
ENST00000316623.9:c.7769G>A ENSP00000325527.5:p.Cys2590Tyr
ENST00000559133.5:c.3138G>A
NM_000138.4:c.7769G>A , LRG_778t1:c.7769G>A NP_000129.3:p.Cys2590Tyr
NM_000138.5:c.7769G>A MANE Select NP_000129.3:p.Cys2590Tyr
Search 100 bp 5'
Search 100 bp 3'