Canonical Allele Identifier: CA023858
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 132999
dbSNP Id: rs55876273

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38527707G>C , CM000681.2:g.38527707G>C GRCh38
NC_000019.9:g.39018347G>C , CM000681.1:g.39018347G>C GRCh37
NC_000019.8:g.43710187G>C NCBI36
NG_008866.1:g.99008G>C , LRG_766:g.99008G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000599547.6:c.10686G>C ENSP00000471601.2:n.10686G>C
ENST00000359596.8:c.10747G>C MANE Select ENSP00000352608.2:p.Glu3583Gln
ENST00000355481.8:c.10732G>C ENSP00000347667.3:p.Glu3578Gln
ENST00000359596.7:c.10747G>C ENSP00000352608.2:p.Glu3583Gln
ENST00000360985.7:c.10729G>C ENSP00000354254.4:p.Glu3577Gln
ENST00000594335.5:c.4134G>C
ENST00000599547.5:c.1554G>C
NM_000540.2:c.10747G>C , LRG_766t1:c.10747G>C NP_000531.2:p.Glu3583Gln
NM_001042723.1:c.10732G>C NP_001036188.1:p.Glu3578Gln
XM_006723317.1:c.10747G>C XP_006723380.1:p.Glu3583Gln
XM_006723319.1:c.10732G>C XP_006723382.1:p.Glu3578Gln
XM_011527204.1:c.10744G>C XP_011525506.1:p.Glu3582Gln
XM_011527205.1:c.10747G>C XP_011525507.1:p.Glu3583Gln
XM_006723317.2:c.10747G>C XP_006723380.1:p.Glu3583Gln
XM_006723319.2:c.10732G>C XP_006723382.1:p.Glu3578Gln
XM_011527205.2:c.10747G>C XP_011525507.1:p.Glu3583Gln
XR_001753936.1:n.304C>G
NM_000540.3:c.10747G>C MANE Select NP_000531.2:p.Glu3583Gln
NM_001042723.2:c.10732G>C NP_001036188.1:p.Glu3578Gln