Canonical Allele Identifier: CA024189
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12986
ClinVar RCV Id: RCV000013858
dbSNP Id: rs118192169

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38580445_38580465del , CM000681.2:g.38580445_38580465del GRCh38
NC_000019.9:g.39071085_39071105del , CM000681.1:g.39071085_39071105del GRCh37
NC_000019.8:g.43762925_43762945del NCBI36
NG_008866.1:g.151746_151766del , LRG_766:g.151746_151766del

Transcript Alleles

HGVS Amino-acid change
ENST00000593677.2:c.1523_1543del
ENST00000688602.1:c.2920_2940del
ENST00000689936.1:c.2892_2912del
ENST00000359596.8:c.14587_14607del MANE Select ENSP00000352608.2:p.Phe4863_Asp4869del
ENST00000355481.8:c.14572_14592del ENSP00000347667.3:p.Phe4858_Asp4864del
ENST00000359596.7:c.14587_14607del ENSP00000352608.2:p.Phe4863_Asp4869del
ENST00000360985.7:c.14569_14589del ENSP00000354254.4:p.Phe4857_Asp4863del
NM_000540.2:c.14587_14607del , LRG_766t1:c.14587_14607del NP_000531.2:p.Phe4863_Asp4869del
NM_001042723.1:c.14572_14592del NP_001036188.1:p.Phe4858_Asp4864del
XM_006723317.1:c.14569_14589del XP_006723380.1:p.Phe4857_Asp4863del
XM_006723319.1:c.14554_14574del XP_006723382.1:p.Phe4852_Asp4858del
XM_011527204.1:c.14584_14604del XP_011525506.1:p.Phe4862_Asp4868del
XM_011527205.1:c.14500_14520del XP_011525507.1:p.Phe4834_Asp4840del
XM_006723317.2:c.14569_14589del XP_006723380.1:p.Phe4857_Asp4863del
XM_006723319.2:c.14554_14574del XP_006723382.1:p.Phe4852_Asp4858del
XM_011527205.2:c.14500_14520del XP_011525507.1:p.Phe4834_Asp4840del
NM_000540.3:c.14587_14607del MANE Select NP_000531.2:p.Phe4863_Asp4869del
NM_001042723.2:c.14572_14592del NP_001036188.1:p.Phe4858_Asp4864del