Canonical Allele Identifier: CA024747
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12970
ClinVar RCV Id: RCV000013837 RCV000119698 RCV000551243 RCV000612258 RCV001787719 RCV001787720 RCV001787721 RCV001787722 RCV001787724 RCV001787723 RCV001787725 RCV002288488 RCV002513026
dbSNP Id: rs121918593
ExAC: 19:38990633 G / A
gnomAD v2: 19-38990633-G-A
gnomAD v3: 19-38499993-G-A
gnomAD v4: 19-38499993-G-A
COSMIC: COSM307553
MyVariant Identifiers: chr19:g.38990633G>A (hg19) chr19:g.38499993G>A (hg38)
PubMed: PMID:7849712 PMID:7881417 PMID:8661021 PMID:9030597 PMID:9334205 PMID:9873004 PMID:10051009 PMID:11575529 PMID:11668625 PMID:12059893 PMID:12124989 PMID:15281512 PMID:16917943 PMID:17081152 PMID:19648156 PMID:23628358 PMID:23842196 PMID:24433488
ERepo: CA024747/MONDO:0007783/012
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38499993G>A , CM000681.2:g.38499993G>A GRCh38
NC_000019.9:g.38990633G>A , CM000681.1:g.38990633G>A GRCh37
NC_000019.8:g.43682473G>A NCBI36
NG_008866.1:g.71294G>A , LRG_766:g.71294G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7300G>A ENSP00000471601.2:p.Gly2434Arg
ENST00000359596.8:c.7300G>A MANE Select ENSP00000352608.2:p.Gly2434Arg
ENST00000355481.8:c.7300G>A ENSP00000347667.3:p.Gly2434Arg
ENST00000359596.7:c.7300G>A ENSP00000352608.2:p.Gly2434Arg
ENST00000360985.7:c.7297G>A ENSP00000354254.4:p.Gly2433Arg
ENST00000594335.5:c.752G>A
NM_000540.2:c.7300G>A , LRG_766t1:c.7300G>A NP_000531.2:p.Gly2434Arg
NM_001042723.1:c.7300G>A NP_001036188.1:p.Gly2434Arg
XM_006723317.1:c.7300G>A XP_006723380.1:p.Gly2434Arg
XM_006723319.1:c.7300G>A XP_006723382.1:p.Gly2434Arg
XM_011527204.1:c.7297G>A XP_011525506.1:p.Gly2433Arg
XM_011527205.1:c.7300G>A XP_011525507.1:p.Gly2434Arg
XM_006723317.2:c.7300G>A XP_006723380.1:p.Gly2434Arg
XM_006723319.2:c.7300G>A XP_006723382.1:p.Gly2434Arg
XM_011527205.2:c.7300G>A XP_011525507.1:p.Gly2434Arg
XR_001753735.1:n.7383G>A
NM_000540.3:c.7300G>A MANE Select NP_000531.2:p.Gly2434Arg
NM_001042723.2:c.7300G>A NP_001036188.1:p.Gly2434Arg
Search 100 bp 5'
Search 100 bp 3'