Canonical Allele Identifier: CA2576771133
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502810_38502811insC , CM000681.2:g.38502810_38502811insC GRCh38
NC_000019.9:g.38993450_38993451insC , CM000681.1:g.38993450_38993451insC GRCh37
NC_000019.8:g.43685290_43685291insC NCBI36
NG_008866.1:g.74111_74112insC , LRG_766:g.74111_74112insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7836-70_7836-69insC ENSP00000471601.2:n.7836-70_7836-69insC
ENST00000359596.8:c.7836-70_7836-69insC MANE Select ENSP00000352608.2:n.7836-70_7836-69insC
ENST00000355481.8:c.7836-70_7836-69insC ENSP00000347667.3:n.7836-70_7836-69insC
ENST00000359596.7:c.7836-70_7836-69insC ENSP00000352608.2:n.7836-70_7836-69insC
ENST00000360985.7:c.7833-70_7833-69insC ENSP00000354254.4:n.7833-70_7833-69insC
ENST00000594335.5:c.1288-70_1288-69insC
NM_000540.2:c.7836-70_7836-69insC , LRG_766t1:c.7836-70_7836-69insC NP_000531.2:n.7836-70_7836-69insC
NM_001042723.1:c.7836-70_7836-69insC NP_001036188.1:n.7836-70_7836-69insC
XM_006723317.1:c.7836-70_7836-69insC XP_006723380.1:n.7836-70_7836-69insC
XM_006723319.1:c.7836-70_7836-69insC XP_006723382.1:n.7836-70_7836-69insC
XM_011527204.1:c.7833-70_7833-69insC XP_011525506.1:n.7833-70_7833-69insC
XM_011527205.1:c.7836-70_7836-69insC XP_011525507.1:n.7836-70_7836-69insC
XM_006723317.2:c.7836-70_7836-69insC XP_006723380.1:n.7836-70_7836-69insC
XM_006723319.2:c.7836-70_7836-69insC XP_006723382.1:n.7836-70_7836-69insC
XM_011527205.2:c.7836-70_7836-69insC XP_011525507.1:n.7836-70_7836-69insC
XR_001753735.1:n.7919-70_7919-69insC
NM_000540.3:c.7836-70_7836-69insC MANE Select NP_000531.2:n.7836-70_7836-69insC
NM_001042723.2:c.7836-70_7836-69insC NP_001036188.1:n.7836-70_7836-69insC
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