Canonical Allele Identifier: CA392337017
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 547338
ClinVar RCV Id: RCV000659562
dbSNP Id: rs1555395261
MyVariant Identifiers: chr15:g.48730024C>T (hg19) chr15:g.48437827C>T (hg38)
ERepo: CA392337017/MONDO:0007947/022
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48437827C>T , CM000677.2:g.48437827C>T GRCh38
NC_000015.9:g.48730024C>T , CM000677.1:g.48730024C>T GRCh37
NC_000015.8:g.46517316C>T NCBI36
NG_008805.2:g.212962G>A , LRG_778:g.212962G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6254G>A ENSP00000453958.2:p.Cys2085Tyr
ENST00000674301.2:c.6254G>A ENSP00000501333.2:p.Cys2085Tyr
ENST00000316623.10:c.6254G>A MANE Select ENSP00000325527.5:p.Cys2085Tyr
ENST00000674301.1:c.1253G>A ENSP00000501333.1:p.Cys418Tyr
ENST00000316623.9:c.6254G>A ENSP00000325527.5:p.Cys2085Tyr
ENST00000537463.6:c.*2017G>A ENSP00000440294.2:n.*2017G>A
ENST00000559133.5:c.1561G>A
ENST00000560820.1:n.374G>A
NM_000138.4:c.6254G>A , LRG_778t1:c.6254G>A NP_000129.3:p.Cys2085Tyr
NM_000138.5:c.6254G>A MANE Select NP_000129.3:p.Cys2085Tyr
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