Canonical Allele Identifier: CA024970
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 41910
dbSNP Id: rs147012990

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38512253T>C , CM000681.2:g.38512253T>C GRCh38
NC_000019.9:g.39002893T>C , CM000681.1:g.39002893T>C GRCh37
NC_000019.8:g.43694733T>C NCBI36
NG_008866.1:g.83554T>C , LRG_766:g.83554T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000359596.8:c.9242T>C MANE Select ENSP00000352608.2:p.Met3081Thr
ENST00000355481.8:c.9242T>C ENSP00000347667.3:p.Met3081Thr
ENST00000359596.7:n.9242T>C ENSP00000352608.2:p.Met3081Thr
ENST00000360985.7:c.9239T>C ENSP00000354254.4:p.Met3080Thr
ENST00000594335.5:n.2644T>C
ENST00000599547.5:n.49T>C
NM_000540.2:c.9242T>C , LRG_766t1:c.9242T>C NP_000531.2:p.Met3081Thr
NM_001042723.1:c.9242T>C NP_001036188.1:p.Met3081Thr
XM_006723317.1:c.9242T>C XP_006723380.1:p.Met3081Thr
XM_006723319.1:c.9242T>C XP_006723382.1:p.Met3081Thr
XM_011527204.1:c.9239T>C XP_011525506.1:p.Met3080Thr
XM_011527205.1:c.9242T>C XP_011525507.1:p.Met3081Thr
XM_006723317.2:c.9242T>C XP_006723380.1:p.Met3081Thr
XM_006723319.2:c.9242T>C XP_006723382.1:p.Met3081Thr
XM_011527205.2:c.9242T>C XP_011525507.1:p.Met3081Thr
XR_001753735.1:n.9275T>C
NM_000540.3:c.9242T>C MANE Select NP_000531.2:p.Met3081Thr
NM_001042723.2:c.9242T>C NP_001036188.1:p.Met3081Thr