Canonical Allele Identifier: CA070758
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 771989
dbSNP Id: rs780269941

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502874C>T , CM000681.2:g.38502874C>T GRCh38
NC_000019.9:g.38993514C>T , CM000681.1:g.38993514C>T GRCh37
NC_000019.8:g.43685354C>T NCBI36
NG_008866.1:g.74175C>T , LRG_766:g.74175C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000599547.6:c.7836-6C>T ENSP00000471601.2:n.7836-6C>T
ENST00000359596.8:c.7836-6C>T MANE Select ENSP00000352608.2:n.7836-6C>T
ENST00000355481.8:c.7836-6C>T ENSP00000347667.3:n.7836-6C>T
ENST00000359596.7:c.7836-6C>T ENSP00000352608.2:n.7836-6C>T
ENST00000360985.7:c.7833-6C>T ENSP00000354254.4:n.7833-6C>T
ENST00000594335.5:c.1288-6C>T
NM_000540.2:c.7836-6C>T , LRG_766t1:c.7836-6C>T NP_000531.2:n.7836-6C>T
NM_001042723.1:c.7836-6C>T NP_001036188.1:n.7836-6C>T
XM_006723317.1:c.7836-6C>T XP_006723380.1:n.7836-6C>T
XM_006723319.1:c.7836-6C>T XP_006723382.1:n.7836-6C>T
XM_011527204.1:c.7833-6C>T XP_011525506.1:n.7833-6C>T
XM_011527205.1:c.7836-6C>T XP_011525507.1:n.7836-6C>T
XM_006723317.2:c.7836-6C>T XP_006723380.1:n.7836-6C>T
XM_006723319.2:c.7836-6C>T XP_006723382.1:n.7836-6C>T
XM_011527205.2:c.7836-6C>T XP_011525507.1:n.7836-6C>T
XR_001753735.1:n.7919-6C>T
NM_000540.3:c.7836-6C>T MANE Select NP_000531.2:n.7836-6C>T
NM_001042723.2:c.7836-6C>T NP_001036188.1:n.7836-6C>T