Canonical Allele Identifier: CA392336264
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 547340
ClinVar RCV Id: RCV000659565 RCV003767911
dbSNP Id: rs1555395189
MyVariant Identifiers: chr15:g.48729163C>T (hg19) chr15:g.48436966C>T (hg38)
ERepo: CA392336264/MONDO:0007947/022
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48436966C>T , CM000677.2:g.48436966C>T GRCh38
NC_000015.9:g.48729163C>T , CM000677.1:g.48729163C>T GRCh37
NC_000015.8:g.46516455C>T NCBI36
NG_008805.2:g.213823G>A , LRG_778:g.213823G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6491G>A ENSP00000453958.2:p.Cys2164Tyr
ENST00000674301.2:c.6491G>A ENSP00000501333.2:p.Cys2164Tyr
ENST00000682170.1:n.100G>A
ENST00000316623.10:c.6491G>A MANE Select ENSP00000325527.5:p.Cys2164Tyr
ENST00000674301.1:c.1490G>A ENSP00000501333.1:p.Cys497Tyr
ENST00000316623.9:c.6491G>A ENSP00000325527.5:p.Cys2164Tyr
ENST00000537463.6:c.*2254G>A ENSP00000440294.2:n.*2254G>A
ENST00000559133.5:c.1798G>A
NM_000138.4:c.6491G>A , LRG_778t1:c.6491G>A NP_000129.3:p.Cys2164Tyr
NM_000138.5:c.6491G>A MANE Select NP_000129.3:p.Cys2164Tyr
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