Canonical Allele Identifier: CA16620836
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 421003
ClinVar RCV Id: RCV000485492
dbSNP Id: rs1064794845

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38496232_38496233del , CM000681.2:g.38496232_38496233del GRCh38
NC_000019.9:g.38986872_38986873del , CM000681.1:g.38986872_38986873del GRCh37
NC_000019.8:g.43678712_43678713del NCBI36
NG_008866.1:g.67533_67534del , LRG_766:g.67533_67534del

Transcript Alleles

HGVS Amino-acid change
ENST00000599547.6:c.6566_6567del ENSP00000471601.2:p.Lys2189SerfsTer?
ENST00000359596.8:c.6566_6567del MANE Select ENSP00000352608.2:p.Lys2189SerfsTer?
ENST00000355481.8:c.6566_6567del ENSP00000347667.3:p.Lys2189SerfsTer?
ENST00000359596.7:c.6566_6567del ENSP00000352608.2:p.Lys2189SerfsTer?
ENST00000360985.7:c.6563_6564del ENSP00000354254.4:p.Lys2188SerfsTer?
ENST00000594335.5:c.18_19del
NM_000540.2:c.6566_6567del , LRG_766t1:c.6566_6567del NP_000531.2:p.Lys2189SerfsTer?
NM_001042723.1:c.6566_6567del NP_001036188.1:p.Lys2189SerfsTer?
XM_006723317.1:c.6566_6567del XP_006723380.1:p.Lys2189SerfsTer?
XM_006723319.1:c.6566_6567del XP_006723382.1:p.Lys2189SerfsTer?
XM_011527204.1:c.6563_6564del XP_011525506.1:p.Lys2188SerfsTer?
XM_011527205.1:c.6566_6567del XP_011525507.1:p.Lys2189SerfsTer?
XM_006723317.2:c.6566_6567del XP_006723380.1:p.Lys2189SerfsTer?
XM_006723319.2:c.6566_6567del XP_006723382.1:p.Lys2189SerfsTer?
XM_011527205.2:c.6566_6567del XP_011525507.1:p.Lys2189SerfsTer?
XR_001753735.1:n.6649_6650del
NM_000540.3:c.6566_6567del MANE Select NP_000531.2:p.Lys2189SerfsTer?
NM_001042723.2:c.6566_6567del NP_001036188.1:p.Lys2189SerfsTer?