Canonical Allele Identifier: CA2580097229
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2028671
ClinVar RCV Id: RCV002876256
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38504869_38504870delinsGC , CM000681.2:g.38504869_38504870delinsGC GRCh38
NC_000019.9:g.38995509_38995510delinsGC , CM000681.1:g.38995509_38995510delinsGC GRCh37
NC_000019.8:g.43687349_43687350delinsGC NCBI36
NG_008866.1:g.76170_76171delinsGC , LRG_766:g.76170_76171delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.8189_8190delinsGC ENSP00000471601.2:p.Asp2730Gly
ENST00000359596.8:c.8189_8190delinsGC MANE Select ENSP00000352608.2:p.Asp2730Gly
ENST00000355481.8:c.8189_8190delinsGC ENSP00000347667.3:p.Asp2730Gly
ENST00000359596.7:c.8189_8190delinsGC ENSP00000352608.2:p.Asp2730Gly
ENST00000360985.7:c.8186_8187delinsGC ENSP00000354254.4:p.Asp2729Gly
ENST00000594335.5:c.1641_1642delinsGC
NM_000540.2:c.8189_8190delinsGC , LRG_766t1:c.8189_8190delinsGC NP_000531.2:p.Asp2730Gly
NM_001042723.1:c.8189_8190delinsGC NP_001036188.1:p.Asp2730Gly
XM_006723317.1:c.8189_8190delinsGC XP_006723380.1:p.Asp2730Gly
XM_006723319.1:c.8189_8190delinsGC XP_006723382.1:p.Asp2730Gly
XM_011527204.1:c.8186_8187delinsGC XP_011525506.1:p.Asp2729Gly
XM_011527205.1:c.8189_8190delinsGC XP_011525507.1:p.Asp2730Gly
XM_006723317.2:c.8189_8190delinsGC XP_006723380.1:p.Asp2730Gly
XM_006723319.2:c.8189_8190delinsGC XP_006723382.1:p.Asp2730Gly
XM_011527205.2:c.8189_8190delinsGC XP_011525507.1:p.Asp2730Gly
XR_001753735.1:n.8272_8273delinsGC
NM_000540.3:c.8189_8190delinsGC MANE Select NP_000531.2:p.Asp2730Gly
NM_001042723.2:c.8189_8190delinsGC NP_001036188.1:p.Asp2730Gly
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