Canonical Allele Identifier: CA2335046319
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1969266175
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38485930dup , CM000681.2:g.38485930dup GRCh38
NC_000019.9:g.38976570dup , CM000681.1:g.38976570dup GRCh37
NC_000019.8:g.43668410dup NCBI36
NG_008866.1:g.57231dup , LRG_766:g.57231dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.5275dup ENSP00000471601.2:p.Arg1759ProfsTer?
ENST00000359596.8:c.5275dup MANE Select ENSP00000352608.2:p.Arg1759ProfsTer?
ENST00000355481.8:c.5275dup ENSP00000347667.3:p.Arg1759ProfsTer?
ENST00000359596.7:c.5275dup ENSP00000352608.2:p.Arg1759ProfsTer?
ENST00000360985.7:c.5272dup ENSP00000354254.4:p.Arg1758ProfsTer?
NM_000540.2:c.5275dup , LRG_766t1:c.5275dup NP_000531.2:p.Arg1759ProfsTer?
NM_001042723.1:c.5275dup NP_001036188.1:p.Arg1759ProfsTer?
XM_006723317.1:c.5275dup XP_006723380.1:p.Arg1759ProfsTer?
XM_006723319.1:c.5275dup XP_006723382.1:p.Arg1759ProfsTer?
XM_011527204.1:c.5272dup XP_011525506.1:p.Arg1758ProfsTer?
XM_011527205.1:c.5275dup XP_011525507.1:p.Arg1759ProfsTer?
XM_006723317.2:c.5275dup XP_006723380.1:p.Arg1759ProfsTer?
XM_006723319.2:c.5275dup XP_006723382.1:p.Arg1759ProfsTer?
XM_011527205.2:c.5275dup XP_011525507.1:p.Arg1759ProfsTer?
XR_001753735.1:n.5358dup
NM_000540.3:c.5275dup MANE Select NP_000531.2:p.Arg1759ProfsTer?
NM_001042723.2:c.5275dup NP_001036188.1:p.Arg1759ProfsTer?
Search 100 bp 5'
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