Canonical Allele Identifier: CA995718637
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1329883828

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502821_38502822insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG , CM000681.2:g.38502821_38502822insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG GRCh38
NC_000019.9:g.38993461_38993462insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG , CM000681.1:g.38993461_38993462insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG GRCh37
NC_000019.8:g.43685301_43685302insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG NCBI36
NG_008866.1:g.74122_74123insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG , LRG_766:g.74122_74123insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7836-59_7836-58insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG ENSP00000471601.2:n.7836-59_7836-58insGAGGGGGAGGGGGAGGGGCAGGG...
ENST00000359596.8:c.7836-59_7836-58insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG MANE Select ENSP00000352608.2:n.7836-59_7836-58insGAGGGGGAGGGGGAGGGGCAGGG...
ENST00000355481.8:c.7836-59_7836-58insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG ENSP00000347667.3:n.7836-59_7836-58insGAGGGGGAGGGGGAGGGGCAGGG...
ENST00000359596.7:c.7836-59_7836-58insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG ENSP00000352608.2:n.7836-59_7836-58insGAGGGGGAGGGGGAGGGGCAGGG...
ENST00000360985.7:c.7833-59_7833-58insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG ENSP00000354254.4:n.7833-59_7833-58insGAGGGGGAGGGGGAGGGGCAGGG...
ENST00000594335.5:c.1288-59_1288-58insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG
NM_000540.2:c.7836-59_7836-58insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG , LRG_766t1:c.7836-59_7836-58insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG NP_000531.2:n.7836-59_7836-58insGAGGGGGAGGGGGAGGGGCAGGGGGAGGG...
NM_001042723.1:c.7836-59_7836-58insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG NP_001036188.1:n.7836-59_7836-58insGAGGGGGAGGGGGAGGGGCAGGGGGA...
XM_006723317.1:c.7836-59_7836-58insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG XP_006723380.1:n.7836-59_7836-58insGAGGGGGAGGGGGAGGGGCAGGGGGA...
XM_006723319.1:c.7836-59_7836-58insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG XP_006723382.1:n.7836-59_7836-58insGAGGGGGAGGGGGAGGGGCAGGGGGA...
XM_011527204.1:c.7833-59_7833-58insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG XP_011525506.1:n.7833-59_7833-58insGAGGGGGAGGGGGAGGGGCAGGGGGA...
XM_011527205.1:c.7836-59_7836-58insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG XP_011525507.1:n.7836-59_7836-58insGAGGGGGAGGGGGAGGGGCAGGGGGA...
XM_006723317.2:c.7836-59_7836-58insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG XP_006723380.1:n.7836-59_7836-58insGAGGGGGAGGGGGAGGGGCAGGGGGA...
XM_006723319.2:c.7836-59_7836-58insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG XP_006723382.1:n.7836-59_7836-58insGAGGGGGAGGGGGAGGGGCAGGGGGA...
XM_011527205.2:c.7836-59_7836-58insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG XP_011525507.1:n.7836-59_7836-58insGAGGGGGAGGGGGAGGGGCAGGGGGA...
XR_001753735.1:n.7919-59_7919-58insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG
NM_000540.3:c.7836-59_7836-58insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG MANE Select NP_000531.2:n.7836-59_7836-58insGAGGGGGAGGGGGAGGGGCAGGGGGAGGG...
NM_001042723.2:c.7836-59_7836-58insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG NP_001036188.1:n.7836-59_7836-58insGAGGGGGAGGGGGAGGGGCAGGGGGA...