Canonical Allele Identifier: CA024883
Gene: RYR1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 133217
ClinVar RCV Id: RCV000119737
dbSNP Id: rs193922826

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38504319C>T , CM000681.2:g.38504319C>T GRCh38
NC_000019.9:g.38994959C>T , CM000681.1:g.38994959C>T GRCh37
NC_000019.8:g.43686799C>T NCBI36
NG_008866.1:g.75620C>T , LRG_766:g.75620C>T

Transcript Alleles

HGVS Amino-acid change
NM_000540.2:c.8026C>T , LRG_766t1:c.8026C>T NP_000531.2:p.Arg2676Trp
NM_001042723.1:c.8026C>T VV NP_001036188.1:p.Arg2676Trp
XM_006723317.1:c.8026C>T XP_006723380.1:p.Arg2676Trp
XM_006723319.1:c.8026C>T XP_006723382.1:p.Arg2676Trp
XM_011527204.1:c.8023C>T XP_011525506.1:p.Arg2675Trp
XM_011527205.1:c.8026C>T XP_011525507.1:p.Arg2676Trp
XM_006723317.2:c.8026C>T XP_006723380.1:p.Arg2676Trp
XM_006723319.2:c.8026C>T XP_006723382.1:p.Arg2676Trp
XM_011527205.2:c.8026C>T XP_011525507.1:p.Arg2676Trp
XR_001753735.1:n.8109C>T
ENST00000355481.8:c.8026C>T ENSP00000347667.3:p.Arg2676Trp
ENST00000359596.7:n.8026C>T ENSP00000352608.2:p.Arg2676Trp
ENST00000360985.7:c.8023C>T ENSP00000354254.4:p.Arg2675Trp
ENST00000594335.5:n.1478C>T