Canonical Allele Identifier: CA024397
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133126
ClinVar RCV Id: RCV000119610 RCV000456108 RCV001580435 RCV002515808 RCV002483207
dbSNP Id: rs193922776
ExAC: 19:38959642 C / T
gnomAD v2: 19-38959642-C-T
gnomAD v3: 19-38469002-C-T
gnomAD v4: 19-38469002-C-T
MyVariant Identifiers: chr19:g.38959642C>T (hg19) chr19:g.38469002C>T (hg38)
ERepo: CA024397/MONDO:0007783/012
PubMed: PMID:16917943
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38469002C>T , CM000681.2:g.38469002C>T GRCh38
NC_000019.9:g.38959642C>T , CM000681.1:g.38959642C>T GRCh37
NC_000019.8:g.43651482C>T NCBI36
NG_008866.1:g.40303C>T , LRG_766:g.40303C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.3418C>T ENSP00000471601.2:p.Arg1140Cys
ENST00000359596.8:c.3418C>T MANE Select ENSP00000352608.2:p.Arg1140Cys
ENST00000355481.8:c.3418C>T ENSP00000347667.3:p.Arg1140Cys
ENST00000359596.7:c.3418C>T ENSP00000352608.2:p.Arg1140Cys
ENST00000360985.7:c.3418C>T ENSP00000354254.4:p.Arg1140Cys
NM_000540.2:c.3418C>T , LRG_766t1:c.3418C>T NP_000531.2:p.Arg1140Cys
NM_001042723.1:c.3418C>T NP_001036188.1:p.Arg1140Cys
XM_006723317.1:c.3418C>T XP_006723380.1:p.Arg1140Cys
XM_006723319.1:c.3418C>T XP_006723382.1:p.Arg1140Cys
XM_011527204.1:c.3415C>T XP_011525506.1:p.Arg1139Cys
XM_011527205.1:c.3418C>T XP_011525507.1:p.Arg1140Cys
XM_006723317.2:c.3418C>T XP_006723380.1:p.Arg1140Cys
XM_006723319.2:c.3418C>T XP_006723382.1:p.Arg1140Cys
XM_011527205.2:c.3418C>T XP_011525507.1:p.Arg1140Cys
XR_001753735.1:n.3501C>T
NM_000540.3:c.3418C>T MANE Select NP_000531.2:p.Arg1140Cys
NM_001042723.2:c.3418C>T NP_001036188.1:p.Arg1140Cys
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