Canonical Allele Identifier: CA024311
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12964
ClinVar RCV Id: RCV000013830 RCV000119586 RCV000538121 RCV000624176 RCV000608635 RCV001787389 RCV001787394 RCV001787390 RCV001787391 RCV001787392 RCV001787393 RCV001787388 RCV002496349
dbSNP Id: rs118192172
ExAC: 19:38948185 C / T
gnomAD v2: 19-38948185-C-T
gnomAD v3: 19-38457545-C-T
gnomAD v4: 19-38457545-C-T
MyVariant Identifiers: chr19:g.38948185C>T (hg19) chr19:g.38457545C>T (hg38)
ERepo: CA024311/MONDO:0007783/012
PubMed: PMID:1329581 PMID:1639409 PMID:1774073 PMID:1774074 PMID:1862346 PMID:4149045 PMID:7511586 PMID:7586638 PMID:7762556 PMID:7889656 PMID:8401544 PMID:8661021 PMID:8828983 PMID:9199552 PMID:9873004 PMID:10484775 PMID:12732639 PMID:16163667 PMID:16380615 PMID:16917943 PMID:18765655 PMID:20583297 PMID:20839240 PMID:23394784 PMID:23553484 PMID:23919265 PMID:24195946 PMID:24433488
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38457545C>T , CM000681.2:g.38457545C>T GRCh38
NC_000019.9:g.38948185C>T , CM000681.1:g.38948185C>T GRCh37
NC_000019.8:g.43640025C>T NCBI36
NG_008866.1:g.28846C>T , LRG_766:g.28846C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.1840C>T ENSP00000471601.2:p.Arg614Cys
ENST00000359596.8:c.1840C>T MANE Select ENSP00000352608.2:p.Arg614Cys
ENST00000355481.8:c.1840C>T ENSP00000347667.3:p.Arg614Cys
ENST00000359596.7:c.1840C>T ENSP00000352608.2:p.Arg614Cys
ENST00000360985.7:c.1840C>T ENSP00000354254.4:p.Arg614Cys
NM_000540.2:c.1840C>T , LRG_766t1:c.1840C>T NP_000531.2:p.Arg614Cys
NM_001042723.1:c.1840C>T NP_001036188.1:p.Arg614Cys
XM_006723317.1:c.1840C>T XP_006723380.1:p.Arg614Cys
XM_006723319.1:c.1840C>T XP_006723382.1:p.Arg614Cys
XM_011527204.1:c.1837C>T XP_011525506.1:p.Arg613Cys
XM_011527205.1:c.1840C>T XP_011525507.1:p.Arg614Cys
XM_006723317.2:c.1840C>T XP_006723380.1:p.Arg614Cys
XM_006723319.2:c.1840C>T XP_006723382.1:p.Arg614Cys
XM_011527205.2:c.1840C>T XP_011525507.1:p.Arg614Cys
XR_001753735.1:n.1923C>T
NM_000540.3:c.1840C>T MANE Select NP_000531.2:p.Arg614Cys
NM_001042723.2:c.1840C>T NP_001036188.1:p.Arg614Cys
Search 100 bp 5'
Search 100 bp 3'