Canonical Allele Identifier: CA024333
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65993
ClinVar RCV Id: RCV000056240 RCV000119591 RCV001588888
dbSNP Id: rs118192113
MyVariant Identifiers: chr19:g.38933035C>A (hg19) chr19:g.38442395C>A (hg38)
ERepo: CA024333/MONDO:0007783/012
PubMed: PMID:16835904 PMID:20301565
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38442395C>A , CM000681.2:g.38442395C>A GRCh38
NC_000019.9:g.38933035C>A , CM000681.1:g.38933035C>A GRCh37
NC_000019.8:g.43624875C>A NCBI36
NG_008866.1:g.13696C>A , LRG_766:g.13696C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000599547.6:c.212C>A ENSP00000471601.2:p.Ser71Tyr
ENST00000359596.8:c.212C>A MANE Select ENSP00000352608.2:p.Ser71Tyr
ENST00000355481.8:c.212C>A ENSP00000347667.3:p.Ser71Tyr
ENST00000359596.7:c.212C>A ENSP00000352608.2:p.Ser71Tyr
ENST00000360985.7:c.212C>A ENSP00000354254.4:p.Ser71Tyr
NM_000540.2:c.212C>A , LRG_766t1:c.212C>A NP_000531.2:p.Ser71Tyr
NM_001042723.1:c.212C>A NP_001036188.1:p.Ser71Tyr
XM_006723317.1:c.212C>A XP_006723380.1:p.Ser71Tyr
XM_006723319.1:c.212C>A XP_006723382.1:p.Ser71Tyr
XM_011527204.1:c.212C>A XP_011525506.1:p.Ser71Tyr
XM_011527205.1:c.212C>A XP_011525507.1:p.Ser71Tyr
XM_006723317.2:c.212C>A XP_006723380.1:p.Ser71Tyr
XM_006723319.2:c.212C>A XP_006723382.1:p.Ser71Tyr
XM_011527205.2:c.212C>A XP_011525507.1:p.Ser71Tyr
XR_001753735.1:n.295C>A
NM_000540.3:c.212C>A MANE Select NP_000531.2:p.Ser71Tyr
NM_001042723.2:c.212C>A NP_001036188.1:p.Ser71Tyr
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