Canonical Allele Identifier: CA915952999
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 758057
ClinVar RCV Id: RCV001490984
dbSNP Id: rs1600837712
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502907_38502908delinsTT , CM000681.2:g.38502907_38502908delinsTT GRCh38
NC_000019.9:g.38993547_38993548delinsTT , CM000681.1:g.38993547_38993548delinsTT GRCh37
NC_000019.8:g.43685387_43685388delinsTT NCBI36
NG_008866.1:g.74208_74209delinsTT , LRG_766:g.74208_74209delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7863_7864delinsTT ENSP00000471601.2:p.His2621=
ENST00000359596.8:c.7863_7864delinsTT MANE Select ENSP00000352608.2:p.His2621=
ENST00000355481.8:c.7863_7864delinsTT ENSP00000347667.3:p.His2621=
ENST00000359596.7:c.7863_7864delinsTT ENSP00000352608.2:p.His2621=
ENST00000360985.7:c.7860_7861delinsTT ENSP00000354254.4:p.His2620=
ENST00000594335.5:c.1315_1316delinsTT
NM_000540.2:c.7863_7864delinsTT , LRG_766t1:c.7863_7864delinsTT NP_000531.2:p.His2621=
NM_001042723.1:c.7863_7864delinsTT NP_001036188.1:p.His2621=
XM_006723317.1:c.7863_7864delinsTT XP_006723380.1:p.His2621=
XM_006723319.1:c.7863_7864delinsTT XP_006723382.1:p.His2621=
XM_011527204.1:c.7860_7861delinsTT XP_011525506.1:p.His2620=
XM_011527205.1:c.7863_7864delinsTT XP_011525507.1:p.His2621=
XM_006723317.2:c.7863_7864delinsTT XP_006723380.1:p.His2621=
XM_006723319.2:c.7863_7864delinsTT XP_006723382.1:p.His2621=
XM_011527205.2:c.7863_7864delinsTT XP_011525507.1:p.His2621=
XR_001753735.1:n.7946_7947delinsTT
NM_000540.3:c.7863_7864delinsTT MANE Select NP_000531.2:p.His2621=
NM_001042723.2:c.7863_7864delinsTT NP_001036188.1:p.His2621=
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