Canonical Allele Identifier: CA024489
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133146
dbSNP Id: rs193922745

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38440750_38440752del , CM000681.2:g.38440750_38440752del GRCh38
NC_000019.9:g.38931390_38931392del , CM000681.1:g.38931390_38931392del GRCh37
NC_000019.8:g.43623230_43623232del NCBI36
NG_008866.1:g.12051_12053del , LRG_766:g.12051_12053del

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.51_53del ENSP00000471601.2:p.Asp17del
ENST00000359596.8:c.51_53del MANE Select ENSP00000352608.2:p.Asp17del
ENST00000355481.8:c.51_53del ENSP00000347667.3:p.Asp17del
ENST00000359596.7:c.51_53del ENSP00000352608.2:p.Asp17del
ENST00000360985.7:c.51_53del ENSP00000354254.4:p.Asp17del
NM_000540.2:c.51_53del , LRG_766t1:c.51_53del NP_000531.2:p.Asp17del
NM_001042723.1:c.51_53del NP_001036188.1:p.Asp17del
XM_006723317.1:c.51_53del XP_006723380.1:p.Asp17del
XM_006723319.1:c.51_53del XP_006723382.1:p.Asp17del
XM_011527204.1:c.51_53del XP_011525506.1:p.Asp17del
XM_011527205.1:c.51_53del XP_011525507.1:p.Asp17del
XM_006723317.2:c.51_53del XP_006723380.1:p.Asp17del
XM_006723319.2:c.51_53del XP_006723382.1:p.Asp17del
XM_011527205.2:c.51_53del XP_011525507.1:p.Asp17del
XR_001753735.1:n.134_136del
NM_000540.3:c.51_53del MANE Select NP_000531.2:p.Asp17del
NM_001042723.2:c.51_53del NP_001036188.1:p.Asp17del