Canonical Allele Identifier: CA024118
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133061
ClinVar RCV Id: RCV000119503 RCV001380753 RCV002498548 RCV003231155
dbSNP Id: rs193922868
ExAC: 19:39068595 G / A
gnomAD v2: 19-39068595-G-A
gnomAD v4: 19-38577955-G-A
MyVariant Identifiers: chr19:g.39068595G>A (hg19) chr19:g.38577955G>A (hg38)
PubMed: PMID:16917943
ERepo: CA024118/MONDO:0018493/012
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577955G>A , CM000681.2:g.38577955G>A GRCh38
NC_000019.9:g.39068595G>A , CM000681.1:g.39068595G>A GRCh37
NC_000019.8:g.43760435G>A NCBI36
NG_008866.1:g.149256G>A , LRG_766:g.149256G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1146G>A
ENST00000688602.1:c.2543G>A
ENST00000689936.1:c.2515G>A
ENST00000359596.8:c.14210G>A MANE Select ENSP00000352608.2:p.Arg4737Gln
ENST00000355481.8:c.14195G>A ENSP00000347667.3:p.Arg4732Gln
ENST00000359596.7:c.14210G>A ENSP00000352608.2:p.Arg4737Gln
ENST00000360985.7:c.14192G>A ENSP00000354254.4:p.Arg4731Gln
NM_000540.2:c.14210G>A , LRG_766t1:c.14210G>A NP_000531.2:p.Arg4737Gln
NM_001042723.1:c.14195G>A NP_001036188.1:p.Arg4732Gln
XM_006723317.1:c.14192G>A XP_006723380.1:p.Arg4731Gln
XM_006723319.1:c.14177G>A XP_006723382.1:p.Arg4726Gln
XM_011527204.1:c.14207G>A XP_011525506.1:p.Arg4736Gln
XM_011527205.1:c.14123G>A XP_011525507.1:p.Arg4708Gln
XM_006723317.2:c.14192G>A XP_006723380.1:p.Arg4731Gln
XM_006723319.2:c.14177G>A XP_006723382.1:p.Arg4726Gln
XM_011527205.2:c.14123G>A XP_011525507.1:p.Arg4708Gln
NM_000540.3:c.14210G>A MANE Select NP_000531.2:p.Arg4737Gln
NM_001042723.2:c.14195G>A NP_001036188.1:p.Arg4732Gln
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