Canonical Allele Identifier: CA024215
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65945
dbSNP Id: rs118192149

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38584967G>C , CM000681.2:g.38584967G>C GRCh38
NC_000019.9:g.39075607G>C , CM000681.1:g.39075607G>C GRCh37
NC_000019.8:g.43767447G>C NCBI36
NG_008866.1:g.156268G>C , LRG_766:g.156268G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000593677.2:c.1607G>C
ENST00000688602.1:c.3004G>C
ENST00000689936.1:c.2976G>C
ENST00000692547.1:n.64G>C
ENST00000359596.8:c.14671G>C MANE Select ENSP00000352608.2:p.Gly4891Arg
ENST00000355481.8:c.14656G>C ENSP00000347667.3:p.Gly4886Arg
ENST00000359596.7:c.14671G>C ENSP00000352608.2:p.Gly4891Arg
ENST00000360985.7:c.14653G>C ENSP00000354254.4:p.Gly4885Arg
NM_000540.2:c.14671G>C , LRG_766t1:c.14671G>C NP_000531.2:p.Gly4891Arg
NM_001042723.1:c.14656G>C NP_001036188.1:p.Gly4886Arg
XM_006723317.1:c.14653G>C XP_006723380.1:p.Gly4885Arg
XM_006723319.1:c.14638G>C XP_006723382.1:p.Gly4880Arg
XM_011527204.1:c.14668G>C XP_011525506.1:p.Gly4890Arg
XM_011527205.1:c.14584G>C XP_011525507.1:p.Gly4862Arg
XM_006723317.2:c.14653G>C XP_006723380.1:p.Gly4885Arg
XM_006723319.2:c.14638G>C XP_006723382.1:p.Gly4880Arg
XM_011527205.2:c.14584G>C XP_011525507.1:p.Gly4862Arg
NM_000540.3:c.14671G>C MANE Select NP_000531.2:p.Gly4891Arg
NM_001042723.2:c.14656G>C NP_001036188.1:p.Gly4886Arg