Canonical Allele Identifier: CA891844031
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 572222
ClinVar RCV Id: RCV000693553 RCV000781352 RCV001197262
dbSNP Id: rs1566918075
MyVariant Identifiers: chr15:g.48812993dup (hg19) chr15:g.48520796dup (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48520796dup , CM000677.2:g.48520796dup GRCh38
NC_000015.9:g.48812993dup , CM000677.1:g.48812993dup GRCh37
NC_000015.8:g.46600285dup NCBI36
NG_008805.2:g.129993dup , LRG_778:g.129993dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.1010dup ENSP00000453958.2:p.Tyr337Ter
ENST00000674301.2:c.1010dup ENSP00000501333.2:p.Tyr337Ter
ENST00000316623.10:c.1010dup MANE Select ENSP00000325527.5:p.Tyr337Ter
ENST00000316623.9:c.1010dup ENSP00000325527.5:p.Tyr337Ter
ENST00000537463.6:c.636+16915dup ENSP00000440294.2:n.636+16915dup
NM_000138.4:c.1010dup , LRG_778t1:c.1010dup NP_000129.3:p.Tyr337Ter
NM_000138.5:c.1010dup MANE Select NP_000129.3:p.Tyr337Ter
Search 100 bp 5'
Search 100 bp 3'