Canonical Allele Identifier: CA024433
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93269
ClinVar RCV Id: RCV000148803 RCV000259079 RCV000348954 RCV000315938 RCV000372946 RCV000294059 RCV000487936 RCV001082546
dbSNP Id: rs137933390
ExAC: 19:38965975 A / G
gnomAD v2: 19-38965975-A-G
gnomAD v3: 19-38475335-A-G
gnomAD v4: 19-38475335-A-G
COSMIC: COSM1236137
MyVariant Identifiers: chr19:g.38965975A>G (hg19) chr19:g.38475335A>G (hg38)
ERepo: CA024433/MONDO:0018493/012
PubMed: PMID:19346234 PMID:20142353 PMID:23329375 PMID:23628358 PMID:23891399 PMID:24195946 PMID:24433488 PMID:25637381 PMID:25658027 PMID:25735680 PMID:25985138 PMID:26332594 PMID:27147545 PMID:27153395
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38475335A>G , CM000681.2:g.38475335A>G GRCh38
NC_000019.9:g.38965975A>G , CM000681.1:g.38965975A>G GRCh37
NC_000019.8:g.43657815A>G NCBI36
NG_008866.1:g.46636A>G , LRG_766:g.46636A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.4178A>G ENSP00000471601.2:p.Lys1393Arg
ENST00000359596.8:c.4178A>G MANE Select ENSP00000352608.2:p.Lys1393Arg
ENST00000355481.8:c.4178A>G ENSP00000347667.3:p.Lys1393Arg
ENST00000359596.7:c.4178A>G ENSP00000352608.2:p.Lys1393Arg
ENST00000360985.7:c.4175A>G ENSP00000354254.4:p.Lys1392Arg
NM_000540.2:c.4178A>G , LRG_766t1:c.4178A>G NP_000531.2:p.Lys1393Arg
NM_001042723.1:c.4178A>G NP_001036188.1:p.Lys1393Arg
XM_006723317.1:c.4178A>G XP_006723380.1:p.Lys1393Arg
XM_006723319.1:c.4178A>G XP_006723382.1:p.Lys1393Arg
XM_011527204.1:c.4175A>G XP_011525506.1:p.Lys1392Arg
XM_011527205.1:c.4178A>G XP_011525507.1:p.Lys1393Arg
XM_006723317.2:c.4178A>G XP_006723380.1:p.Lys1393Arg
XM_006723319.2:c.4178A>G XP_006723382.1:p.Lys1393Arg
XM_011527205.2:c.4178A>G XP_011525507.1:p.Lys1393Arg
XR_001753735.1:n.4261A>G
NM_000540.3:c.4178A>G MANE Select NP_000531.2:p.Lys1393Arg
NM_001042723.2:c.4178A>G NP_001036188.1:p.Lys1393Arg
Search 100 bp 5'
Search 100 bp 3'