Canonical Allele Identifier: CA024384
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133122
ClinVar RCV Id: RCV000119605 RCV000307345 RCV000346959 RCV000391226 RCV000310667 RCV000822159 RCV002492408
dbSNP Id: rs180714609
ExAC: 19:38956856 G / A
gnomAD v2: 19-38956856-G-A
gnomAD v3: 19-38466216-G-A
gnomAD v4: 19-38466216-G-A
MyVariant Identifiers: chr19:g.38956856G>A (hg19) chr19:g.38466216G>A (hg38)
ERepo: CA024384/MONDO:0007783/012
PubMed: PMID:16372898
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38466216G>A , CM000681.2:g.38466216G>A GRCh38
NC_000019.9:g.38956856G>A , CM000681.1:g.38956856G>A GRCh37
NC_000019.8:g.43648696G>A NCBI36
NG_008866.1:g.37517G>A , LRG_766:g.37517G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.2996G>A ENSP00000471601.2:p.Arg999His
ENST00000359596.8:c.2996G>A MANE Select ENSP00000352608.2:p.Arg999His
ENST00000355481.8:c.2996G>A ENSP00000347667.3:p.Arg999His
ENST00000359596.7:c.2996G>A ENSP00000352608.2:p.Arg999His
ENST00000360985.7:c.2996G>A ENSP00000354254.4:p.Arg999His
ENST00000594111.1:n.89G>A
NM_000540.2:c.2996G>A , LRG_766t1:c.2996G>A NP_000531.2:p.Arg999His
NM_001042723.1:c.2996G>A NP_001036188.1:p.Arg999His
XM_006723317.1:c.2996G>A XP_006723380.1:p.Arg999His
XM_006723319.1:c.2996G>A XP_006723382.1:p.Arg999His
XM_011527204.1:c.2993G>A XP_011525506.1:p.Arg998His
XM_011527205.1:c.2996G>A XP_011525507.1:p.Arg999His
XM_006723317.2:c.2996G>A XP_006723380.1:p.Arg999His
XM_006723319.2:c.2996G>A XP_006723382.1:p.Arg999His
XM_011527205.2:c.2996G>A XP_011525507.1:p.Arg999His
XR_001753735.1:n.3079G>A
NM_000540.3:c.2996G>A MANE Select NP_000531.2:p.Arg999His
NM_001042723.2:c.2996G>A NP_001036188.1:p.Arg999His
Search 100 bp 5'
Search 100 bp 3'