Canonical Allele Identifier: CA023868
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 132987
ClinVar RCV Id: RCV000119398 RCV000260389 RCV000262019 RCV000315663 RCV000375413
dbSNP Id: rs4632259
gnomAD v2: 19-38924362-T-C
gnomAD v3: 19-38433722-T-C
gnomAD v4: 19-38433722-T-C
MyVariant Identifiers: chr19:g.38924362T>C (hg19) chr19:g.38433722T>C (hg38)
ERepo: CA023868/MONDO:0100150/179
PubMed: PMID:16917943
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38433722T>C , CM000681.2:g.38433722T>C GRCh38
NC_000019.9:g.38924362T>C , CM000681.1:g.38924362T>C GRCh37
NC_000019.8:g.43616202T>C NCBI36
NG_008866.1:g.5023T>C , LRG_766:g.5023T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000359596.8:c.-108T>C MANE Select ENSP00000352608.2:n.-108T>C
ENST00000355481.8:c.-108T>C ENSP00000347667.3:n.-108T>C
NM_000540.2:c.-108T>C , LRG_766t1:c.-108T>C NP_000531.2:n.-108T>C
NM_001042723.1:c.-108T>C NP_001036188.1:n.-108T>C
NM_000540.3:c.-108T>C MANE Select NP_000531.2:n.-108T>C
NM_001042723.2:c.-108T>C NP_001036188.1:n.-108T>C
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