Canonical Allele Identifier: CA392347578
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549001
ClinVar RCV Id: RCV000663439
dbSNP Id: rs1555400606
MyVariant Identifiers: chr15:g.48812930C>T (hg19) chr15:g.48520733C>T (hg38)
ERepo: CA392347578/MONDO:0007947/022
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48520733C>T , CM000677.2:g.48520733C>T GRCh38
NC_000015.9:g.48812930C>T , CM000677.1:g.48812930C>T GRCh37
NC_000015.8:g.46600222C>T NCBI36
NG_008805.2:g.130056G>A , LRG_778:g.130056G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.1073G>A ENSP00000453958.2:p.Cys358Tyr
ENST00000674301.2:c.1073G>A ENSP00000501333.2:p.Cys358Tyr
ENST00000316623.10:c.1073G>A MANE Select ENSP00000325527.5:p.Cys358Tyr
ENST00000316623.9:c.1073G>A ENSP00000325527.5:p.Cys358Tyr
ENST00000537463.6:c.636+16978G>A ENSP00000440294.2:n.636+16978G>A
NM_000138.4:c.1073G>A , LRG_778t1:c.1073G>A NP_000129.3:p.Cys358Tyr
NM_000138.5:c.1073G>A MANE Select NP_000129.3:p.Cys358Tyr
Search 100 bp 5'
Search 100 bp 3'