Canonical Allele Identifier: CA2335088827
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1973787399
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38572940_38572974del , CM000681.2:g.38572940_38572974del GRCh38
NC_000019.9:g.39063580_39063614del , CM000681.1:g.39063580_39063614del GRCh37
NC_000019.8:g.43755420_43755454del NCBI36
NG_008866.1:g.144241_144275del , LRG_766:g.144241_144275del

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.935-237_935-203del
ENST00000688602.1:c.2332-237_2332-203del
ENST00000689936.1:c.2304-237_2304-203del
ENST00000359596.8:c.13999-237_13999-203del MANE Select ENSP00000352608.2:n.13999-237_13999-203del
ENST00000355481.8:c.13984-237_13984-203del ENSP00000347667.3:n.13984-237_13984-203del
ENST00000359596.7:c.13999-237_13999-203del ENSP00000352608.2:n.13999-237_13999-203del
ENST00000360985.7:c.13981-237_13981-203del ENSP00000354254.4:n.13981-237_13981-203del
NM_000540.2:c.13999-237_13999-203del , LRG_766t1:c.13999-237_13999-203del NP_000531.2:n.13999-237_13999-203del
NM_001042723.1:c.13984-237_13984-203del NP_001036188.1:n.13984-237_13984-203del
XM_006723317.1:c.13981-237_13981-203del XP_006723380.1:n.13981-237_13981-203del
XM_006723319.1:c.13966-237_13966-203del XP_006723382.1:n.13966-237_13966-203del
XM_011527204.1:c.13996-237_13996-203del XP_011525506.1:n.13996-237_13996-203del
XM_011527205.1:c.13912-237_13912-203del XP_011525507.1:n.13912-237_13912-203del
XM_006723317.2:c.13981-237_13981-203del XP_006723380.1:n.13981-237_13981-203del
XM_006723319.2:c.13966-237_13966-203del XP_006723382.1:n.13966-237_13966-203del
XM_011527205.2:c.13912-237_13912-203del XP_011525507.1:n.13912-237_13912-203del
NM_000540.3:c.13999-237_13999-203del MANE Select NP_000531.2:n.13999-237_13999-203del
NM_001042723.2:c.13984-237_13984-203del NP_001036188.1:n.13984-237_13984-203del
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