Canonical Allele Identifier: CA2335046216
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38485731_38485733delinsGCT , CM000681.2:g.38485731_38485733delinsGCT GRCh38
NC_000019.9:g.38976371_38976373delinsGCT , CM000681.1:g.38976371_38976373delinsGCT GRCh37
NC_000019.8:g.43668211_43668213delinsGCT NCBI36
NG_008866.1:g.57032_57034delinsGCT , LRG_766:g.57032_57034delinsGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.5076_5078delinsGCT ENSP00000471601.2:p.Gln1692=
ENST00000359596.8:c.5076_5078delinsGCT MANE Select ENSP00000352608.2:p.Gln1692=
ENST00000355481.8:c.5076_5078delinsGCT ENSP00000347667.3:p.Gln1692=
ENST00000359596.7:c.5076_5078delinsGCT ENSP00000352608.2:p.Gln1692=
ENST00000360985.7:c.5073_5075delinsGCT ENSP00000354254.4:p.Gln1691=
NM_000540.2:c.5076_5078delinsGCT , LRG_766t1:c.5076_5078delinsGCT NP_000531.2:p.Gln1692=
NM_001042723.1:c.5076_5078delinsGCT NP_001036188.1:p.Gln1692=
XM_006723317.1:c.5076_5078delinsGCT XP_006723380.1:p.Gln1692=
XM_006723319.1:c.5076_5078delinsGCT XP_006723382.1:p.Gln1692=
XM_011527204.1:c.5073_5075delinsGCT XP_011525506.1:p.Gln1691=
XM_011527205.1:c.5076_5078delinsGCT XP_011525507.1:p.Gln1692=
XM_006723317.2:c.5076_5078delinsGCT XP_006723380.1:p.Gln1692=
XM_006723319.2:c.5076_5078delinsGCT XP_006723382.1:p.Gln1692=
XM_011527205.2:c.5076_5078delinsGCT XP_011525507.1:p.Gln1692=
XR_001753735.1:n.5159_5161delinsGCT
NM_000540.3:c.5076_5078delinsGCT MANE Select NP_000531.2:p.Gln1692=
NM_001042723.2:c.5076_5078delinsGCT NP_001036188.1:p.Gln1692=
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