Canonical Allele Identifier: CA024091
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65961
ClinVar RCV Id: RCV000056208 RCV000119493 RCV001039994
dbSNP Id: rs118192138
MyVariant Identifiers: chr19:g.39062861T>C (hg19) chr19:g.38572221T>C (hg38)
PubMed: PMID:12937085 PMID:20301565
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38572221T>C , CM000681.2:g.38572221T>C GRCh38
NC_000019.9:g.39062861T>C , CM000681.1:g.39062861T>C GRCh37
NC_000019.8:g.43754701T>C NCBI36
NG_008866.1:g.143522T>C , LRG_766:g.143522T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000593677.2:c.885T>C
ENST00000688602.1:c.2282T>C
ENST00000689936.1:c.2254T>C
ENST00000359596.8:c.13949T>C MANE Select ENSP00000352608.2:p.Leu4650Pro
ENST00000355481.8:c.13934T>C ENSP00000347667.3:p.Leu4645Pro
ENST00000359596.7:c.13949T>C ENSP00000352608.2:p.Leu4650Pro
ENST00000360985.7:c.13931T>C ENSP00000354254.4:p.Leu4644Pro
ENST00000593677.1:c.409T>C
NM_000540.2:c.13949T>C , LRG_766t1:c.13949T>C NP_000531.2:p.Leu4650Pro
NM_001042723.1:c.13934T>C NP_001036188.1:p.Leu4645Pro
XM_006723317.1:c.13931T>C XP_006723380.1:p.Leu4644Pro
XM_006723319.1:c.13916T>C XP_006723382.1:p.Leu4639Pro
XM_011527204.1:c.13946T>C XP_011525506.1:p.Leu4649Pro
XM_011527205.1:c.13862T>C XP_011525507.1:p.Leu4621Pro
XM_006723317.2:c.13931T>C XP_006723380.1:p.Leu4644Pro
XM_006723319.2:c.13916T>C XP_006723382.1:p.Leu4639Pro
XM_011527205.2:c.13862T>C XP_011525507.1:p.Leu4621Pro
NM_000540.3:c.13949T>C MANE Select NP_000531.2:p.Leu4650Pro
NM_001042723.2:c.13934T>C NP_001036188.1:p.Leu4645Pro
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