Canonical Allele Identifier: CA2573156352
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1355275
ClinVar RCV Id: RCV001866834
dbSNP Id: rs2145620310
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502916_38502917delinsTT , CM000681.2:g.38502916_38502917delinsTT GRCh38
NC_000019.9:g.38993556_38993557delinsTT , CM000681.1:g.38993556_38993557delinsTT GRCh37
NC_000019.8:g.43685396_43685397delinsTT NCBI36
NG_008866.1:g.74217_74218delinsTT , LRG_766:g.74217_74218delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7872_7873delinsTT ENSP00000471601.2:p.Arg2625Cys
ENST00000359596.8:c.7872_7873delinsTT MANE Select ENSP00000352608.2:p.Arg2625Cys
ENST00000355481.8:c.7872_7873delinsTT ENSP00000347667.3:p.Arg2625Cys
ENST00000359596.7:c.7872_7873delinsTT ENSP00000352608.2:p.Arg2625Cys
ENST00000360985.7:c.7869_7870delinsTT ENSP00000354254.4:p.Arg2624Cys
ENST00000594335.5:c.1324_1325delinsTT
NM_000540.2:c.7872_7873delinsTT , LRG_766t1:c.7872_7873delinsTT NP_000531.2:p.Arg2625Cys
NM_001042723.1:c.7872_7873delinsTT NP_001036188.1:p.Arg2625Cys
XM_006723317.1:c.7872_7873delinsTT XP_006723380.1:p.Arg2625Cys
XM_006723319.1:c.7872_7873delinsTT XP_006723382.1:p.Arg2625Cys
XM_011527204.1:c.7869_7870delinsTT XP_011525506.1:p.Arg2624Cys
XM_011527205.1:c.7872_7873delinsTT XP_011525507.1:p.Arg2625Cys
XM_006723317.2:c.7872_7873delinsTT XP_006723380.1:p.Arg2625Cys
XM_006723319.2:c.7872_7873delinsTT XP_006723382.1:p.Arg2625Cys
XM_011527205.2:c.7872_7873delinsTT XP_011525507.1:p.Arg2625Cys
XR_001753735.1:n.7955_7956delinsTT
NM_000540.3:c.7872_7873delinsTT MANE Select NP_000531.2:p.Arg2625Cys
NM_001042723.2:c.7872_7873delinsTT NP_001036188.1:p.Arg2625Cys
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