Canonical Allele Identifier: CA070023
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1972639
ClinVar RCV Id: RCV002730667
dbSNP Id: rs778270931

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502598T>C , CM000681.2:g.38502598T>C GRCh38
NC_000019.9:g.38993238T>C , CM000681.1:g.38993238T>C GRCh37
NC_000019.8:g.43685078T>C NCBI36
NG_008866.1:g.73899T>C , LRG_766:g.73899T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7706T>C ENSP00000471601.2:p.Phe2569Ser
ENST00000359596.8:c.7706T>C MANE Select ENSP00000352608.2:p.Phe2569Ser
ENST00000355481.8:c.7706T>C ENSP00000347667.3:p.Phe2569Ser
ENST00000359596.7:c.7706T>C ENSP00000352608.2:p.Phe2569Ser
ENST00000360985.7:c.7703T>C ENSP00000354254.4:p.Phe2568Ser
ENST00000594335.5:c.1158T>C
NM_000540.2:c.7706T>C , LRG_766t1:c.7706T>C NP_000531.2:p.Phe2569Ser
NM_001042723.1:c.7706T>C NP_001036188.1:p.Phe2569Ser
XM_006723317.1:c.7706T>C XP_006723380.1:p.Phe2569Ser
XM_006723319.1:c.7706T>C XP_006723382.1:p.Phe2569Ser
XM_011527204.1:c.7703T>C XP_011525506.1:p.Phe2568Ser
XM_011527205.1:c.7706T>C XP_011525507.1:p.Phe2569Ser
XM_006723317.2:c.7706T>C XP_006723380.1:p.Phe2569Ser
XM_006723319.2:c.7706T>C XP_006723382.1:p.Phe2569Ser
XM_011527205.2:c.7706T>C XP_011525507.1:p.Phe2569Ser
XR_001753735.1:n.7789T>C
NM_000540.3:c.7706T>C MANE Select NP_000531.2:p.Phe2569Ser
NM_001042723.2:c.7706T>C NP_001036188.1:p.Phe2569Ser