Canonical Allele Identifier: CA024114
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 199248
ClinVar RCV Id: RCV000180769 RCV000622827 RCV000810031 RCV001193858 RCV002492795 RCV003996590
dbSNP Id: rs766887342
ExAC: 19:39068588 C / T
gnomAD v2: 19-39068588-C-T
gnomAD v3: 19-38577948-C-T
gnomAD v4: 19-38577948-C-T
COSMIC: COSM4077818
MyVariant Identifiers: chr19:g.39068588C>T (hg19) chr19:g.38577948C>T (hg38)
PubMed: PMID:4149045 PMID:8661021 PMID:9199552 PMID:16163667 PMID:16380615 PMID:16917943 PMID:18765655 PMID:20583297 PMID:20839240 PMID:23394784 PMID:23553484 PMID:23919265
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577948C>T , CM000681.2:g.38577948C>T GRCh38
NC_000019.9:g.39068588C>T , CM000681.1:g.39068588C>T GRCh37
NC_000019.8:g.43760428C>T NCBI36
NG_008866.1:g.149249C>T , LRG_766:g.149249C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1139C>T
ENST00000688602.1:c.2536C>T
ENST00000689936.1:c.2508C>T
ENST00000359596.8:c.14203C>T MANE Select ENSP00000352608.2:p.Arg4735Trp
ENST00000355481.8:c.14188C>T ENSP00000347667.3:p.Arg4730Trp
ENST00000359596.7:c.14203C>T ENSP00000352608.2:p.Arg4735Trp
ENST00000360985.7:c.14185C>T ENSP00000354254.4:p.Arg4729Trp
NM_000540.2:c.14203C>T , LRG_766t1:c.14203C>T NP_000531.2:p.Arg4735Trp
NM_001042723.1:c.14188C>T NP_001036188.1:p.Arg4730Trp
XM_006723317.1:c.14185C>T XP_006723380.1:p.Arg4729Trp
XM_006723319.1:c.14170C>T XP_006723382.1:p.Arg4724Trp
XM_011527204.1:c.14200C>T XP_011525506.1:p.Arg4734Trp
XM_011527205.1:c.14116C>T XP_011525507.1:p.Arg4706Trp
XM_006723317.2:c.14185C>T XP_006723380.1:p.Arg4729Trp
XM_006723319.2:c.14170C>T XP_006723382.1:p.Arg4724Trp
XM_011527205.2:c.14116C>T XP_011525507.1:p.Arg4706Trp
NM_000540.3:c.14203C>T MANE Select NP_000531.2:p.Arg4735Trp
NM_001042723.2:c.14188C>T NP_001036188.1:p.Arg4730Trp
Search 100 bp 5'
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