Canonical Allele Identifier: CA024158
Gene: RYR1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 133072
ClinVar RCV Id: RCV000119521
dbSNP Id: rs193922876

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38580114C>T , CM000681.2:g.38580114C>T GRCh38
NC_000019.8:g.43762594C>T NCBI36
NC_000019.9:g.39070754C>T , CM000681.1:g.39070754C>T GRCh37
NG_008866.1:g.151415C>T , LRG_766:g.151415C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355481.8:c.14482C>T ENSP00000347667.3:p.His4828Tyr
ENST00000359596.7:n.14497C>T ENSP00000352608.2:p.His4833Tyr
ENST00000360985.7:c.14479C>T ENSP00000354254.4:p.His4827Tyr
NM_000540.2:c.14497C>T , LRG_766t1:c.14497C>T NP_000531.2:p.His4833Tyr
NM_001042723.1:c.14482C>T VV NP_001036188.1:p.His4828Tyr
XM_006723317.1:c.14479C>T XP_006723380.1:p.His4827Tyr
XM_006723319.1:c.14464C>T XP_006723382.1:p.His4822Tyr
XM_011527204.1:c.14494C>T XP_011525506.1:p.His4832Tyr
XM_011527205.1:c.14410C>T XP_011525507.1:p.His4804Tyr