Canonical Allele Identifier: CA024656
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65968
ClinVar RCV Id: RCV000056215 RCV000119671 RCV001580412
dbSNP Id: rs118192121
MyVariant Identifiers: chr19:g.38987550A>C (hg19) chr19:g.38496910A>C (hg38)
ERepo: CA024656/MONDO:0007783/012
PubMed: PMID:16940308 PMID:20301565
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38496910A>C , CM000681.2:g.38496910A>C GRCh38
NC_000019.9:g.38987550A>C , CM000681.1:g.38987550A>C GRCh37
NC_000019.8:g.43679390A>C NCBI36
NG_008866.1:g.68211A>C , LRG_766:g.68211A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000599547.6:c.6847A>C ENSP00000471601.2:p.Asn2283His
ENST00000359596.8:c.6847A>C MANE Select ENSP00000352608.2:p.Asn2283His
ENST00000355481.8:c.6847A>C ENSP00000347667.3:p.Asn2283His
ENST00000359596.7:c.6847A>C ENSP00000352608.2:p.Asn2283His
ENST00000360985.7:c.6844A>C ENSP00000354254.4:p.Asn2282His
ENST00000594335.5:c.299A>C
NM_000540.2:c.6847A>C , LRG_766t1:c.6847A>C NP_000531.2:p.Asn2283His
NM_001042723.1:c.6847A>C NP_001036188.1:p.Asn2283His
XM_006723317.1:c.6847A>C XP_006723380.1:p.Asn2283His
XM_006723319.1:c.6847A>C XP_006723382.1:p.Asn2283His
XM_011527204.1:c.6844A>C XP_011525506.1:p.Asn2282His
XM_011527205.1:c.6847A>C XP_011525507.1:p.Asn2283His
XM_006723317.2:c.6847A>C XP_006723380.1:p.Asn2283His
XM_006723319.2:c.6847A>C XP_006723382.1:p.Asn2283His
XM_011527205.2:c.6847A>C XP_011525507.1:p.Asn2283His
XR_001753735.1:n.6930A>C
NM_000540.3:c.6847A>C MANE Select NP_000531.2:p.Asn2283His
NM_001042723.2:c.6847A>C NP_001036188.1:p.Asn2283His
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