Canonical Allele Identifier: CA024110
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133058
ClinVar RCV Id: RCV000119500 RCV003221808
dbSNP Id: rs193922865
MyVariant Identifiers: chr19:g.39068582T>G (hg19) chr19:g.38577942T>G (hg38)
PubMed: PMID:15731587
ERepo: CA024110/MONDO:0018493/012
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577942T>G , CM000681.2:g.38577942T>G GRCh38
NC_000019.9:g.39068582T>G , CM000681.1:g.39068582T>G GRCh37
NC_000019.8:g.43760422T>G NCBI36
NG_008866.1:g.149243T>G , LRG_766:g.149243T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1133T>G
ENST00000688602.1:c.2530T>G
ENST00000689936.1:c.2502T>G
ENST00000359596.8:c.14197T>G MANE Select ENSP00000352608.2:p.Tyr4733Asp
ENST00000355481.8:c.14182T>G ENSP00000347667.3:p.Tyr4728Asp
ENST00000359596.7:c.14197T>G ENSP00000352608.2:p.Tyr4733Asp
ENST00000360985.7:c.14179T>G ENSP00000354254.4:p.Tyr4727Asp
NM_000540.2:c.14197T>G , LRG_766t1:c.14197T>G NP_000531.2:p.Tyr4733Asp
NM_001042723.1:c.14182T>G NP_001036188.1:p.Tyr4728Asp
XM_006723317.1:c.14179T>G XP_006723380.1:p.Tyr4727Asp
XM_006723319.1:c.14164T>G XP_006723382.1:p.Tyr4722Asp
XM_011527204.1:c.14194T>G XP_011525506.1:p.Tyr4732Asp
XM_011527205.1:c.14110T>G XP_011525507.1:p.Tyr4704Asp
XM_006723317.2:c.14179T>G XP_006723380.1:p.Tyr4727Asp
XM_006723319.2:c.14164T>G XP_006723382.1:p.Tyr4722Asp
XM_011527205.2:c.14110T>G XP_011525507.1:p.Tyr4704Asp
NM_000540.3:c.14197T>G MANE Select NP_000531.2:p.Tyr4733Asp
NM_001042723.2:c.14182T>G NP_001036188.1:p.Tyr4728Asp
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