Canonical Allele Identifier: CA024705
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133186
ClinVar RCV Id: RCV000119686 RCV001802867
dbSNP Id: rs193922806
MyVariant Identifiers: chr19:g.38990344C>G (hg19) chr19:g.38499704C>G (hg38)
PubMed: PMID:16732084 PMID:16917943
ERepo: CA024705/MONDO:0007783/012
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38499704C>G , CM000681.2:g.38499704C>G GRCh38
NC_000019.9:g.38990344C>G , CM000681.1:g.38990344C>G GRCh37
NC_000019.8:g.43682184C>G NCBI36
NG_008866.1:g.71005C>G , LRG_766:g.71005C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7097C>G ENSP00000471601.2:p.Pro2366Arg
ENST00000359596.8:c.7097C>G MANE Select ENSP00000352608.2:p.Pro2366Arg
ENST00000355481.8:c.7097C>G ENSP00000347667.3:p.Pro2366Arg
ENST00000359596.7:c.7097C>G ENSP00000352608.2:p.Pro2366Arg
ENST00000360985.7:c.7094C>G ENSP00000354254.4:p.Pro2365Arg
ENST00000594335.5:c.549C>G
NM_000540.2:c.7097C>G , LRG_766t1:c.7097C>G NP_000531.2:p.Pro2366Arg
NM_001042723.1:c.7097C>G NP_001036188.1:p.Pro2366Arg
XM_006723317.1:c.7097C>G XP_006723380.1:p.Pro2366Arg
XM_006723319.1:c.7097C>G XP_006723382.1:p.Pro2366Arg
XM_011527204.1:c.7094C>G XP_011525506.1:p.Pro2365Arg
XM_011527205.1:c.7097C>G XP_011525507.1:p.Pro2366Arg
XM_006723317.2:c.7097C>G XP_006723380.1:p.Pro2366Arg
XM_006723319.2:c.7097C>G XP_006723382.1:p.Pro2366Arg
XM_011527205.2:c.7097C>G XP_011525507.1:p.Pro2366Arg
XR_001753735.1:n.7180C>G
NM_000540.3:c.7097C>G MANE Select NP_000531.2:p.Pro2366Arg
NM_001042723.2:c.7097C>G NP_001036188.1:p.Pro2366Arg
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