Canonical Allele Identifier: CA405673031
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2718071
dbSNP Id: rs1248709169

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502717T>G , CM000681.2:g.38502717T>G GRCh38
NC_000019.9:g.38993357T>G , CM000681.1:g.38993357T>G GRCh37
NC_000019.8:g.43685197T>G NCBI36
NG_008866.1:g.74018T>G , LRG_766:g.74018T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7825T>G ENSP00000471601.2:p.Ser2609Ala
ENST00000359596.8:c.7825T>G MANE Select ENSP00000352608.2:p.Ser2609Ala
ENST00000355481.8:c.7825T>G ENSP00000347667.3:p.Ser2609Ala
ENST00000359596.7:c.7825T>G ENSP00000352608.2:p.Ser2609Ala
ENST00000360985.7:c.7822T>G ENSP00000354254.4:p.Ser2608Ala
ENST00000594335.5:c.1277T>G
NM_000540.2:c.7825T>G , LRG_766t1:c.7825T>G NP_000531.2:p.Ser2609Ala
NM_001042723.1:c.7825T>G NP_001036188.1:p.Ser2609Ala
XM_006723317.1:c.7825T>G XP_006723380.1:p.Ser2609Ala
XM_006723319.1:c.7825T>G XP_006723382.1:p.Ser2609Ala
XM_011527204.1:c.7822T>G XP_011525506.1:p.Ser2608Ala
XM_011527205.1:c.7825T>G XP_011525507.1:p.Ser2609Ala
XM_006723317.2:c.7825T>G XP_006723380.1:p.Ser2609Ala
XM_006723319.2:c.7825T>G XP_006723382.1:p.Ser2609Ala
XM_011527205.2:c.7825T>G XP_011525507.1:p.Ser2609Ala
XR_001753735.1:n.7908T>G
NM_000540.3:c.7825T>G MANE Select NP_000531.2:p.Ser2609Ala
NM_001042723.2:c.7825T>G NP_001036188.1:p.Ser2609Ala