Canonical Allele Identifier: CA2335054656
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502801_38502831delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC , CM000681.2:g.38502801_38502831delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC GRCh38
NC_000019.9:g.38993441_38993471delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC , CM000681.1:g.38993441_38993471delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC GRCh37
NC_000019.8:g.43685281_43685311delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC NCBI36
NG_008866.1:g.74102_74132delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC , LRG_766:g.74102_74132delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7835+74_7836-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC ENSP00000471601.2:n.7835+74_7836-49delinsGGGCAGGGGGAGGAGCAGGG...
ENST00000359596.8:c.7835+74_7836-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC MANE Select ENSP00000352608.2:n.7835+74_7836-49delinsGGGCAGGGGGAGGAGCAGGG...
ENST00000355481.8:c.7835+74_7836-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC ENSP00000347667.3:n.7835+74_7836-49delinsGGGCAGGGGGAGGAGCAGGG...
ENST00000359596.7:c.7835+74_7836-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC ENSP00000352608.2:n.7835+74_7836-49delinsGGGCAGGGGGAGGAGCAGGG...
ENST00000360985.7:c.7832+74_7833-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC ENSP00000354254.4:n.7832+74_7833-49delinsGGGCAGGGGGAGGAGCAGGG...
ENST00000594335.5:c.1287+74_1288-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC
NM_000540.2:c.7835+74_7836-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC , LRG_766t1:c.7835+74_7836-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC NP_000531.2:n.7835+74_7836-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGG...
NM_001042723.1:c.7835+74_7836-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC NP_001036188.1:n.7835+74_7836-49delinsGGGCAGGGGGAGGAGCAGGGGCA...
XM_006723317.1:c.7835+74_7836-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC XP_006723380.1:n.7835+74_7836-49delinsGGGCAGGGGGAGGAGCAGGGGCA...
XM_006723319.1:c.7835+74_7836-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC XP_006723382.1:n.7835+74_7836-49delinsGGGCAGGGGGAGGAGCAGGGGCA...
XM_011527204.1:c.7832+74_7833-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC XP_011525506.1:n.7832+74_7833-49delinsGGGCAGGGGGAGGAGCAGGGGCA...
XM_011527205.1:c.7835+74_7836-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC XP_011525507.1:n.7835+74_7836-49delinsGGGCAGGGGGAGGAGCAGGGGCA...
XM_006723317.2:c.7835+74_7836-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC XP_006723380.1:n.7835+74_7836-49delinsGGGCAGGGGGAGGAGCAGGGGCA...
XM_006723319.2:c.7835+74_7836-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC XP_006723382.1:n.7835+74_7836-49delinsGGGCAGGGGGAGGAGCAGGGGCA...
XM_011527205.2:c.7835+74_7836-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC XP_011525507.1:n.7835+74_7836-49delinsGGGCAGGGGGAGGAGCAGGGGCA...
XR_001753735.1:n.7918+74_7919-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC
NM_000540.3:c.7835+74_7836-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC MANE Select NP_000531.2:n.7835+74_7836-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGG...
NM_001042723.2:c.7835+74_7836-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC NP_001036188.1:n.7835+74_7836-49delinsGGGCAGGGGGAGGAGCAGGGGCA...