Canonical Allele Identifier: CA882063164
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1458347744
MyVariant Identifiers: chr19:g.39064060_39064067del (hg19) chr19:g.38573420_38573427del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38573420_38573427del , CM000681.2:g.38573420_38573427del GRCh38
NC_000019.9:g.39064060_39064067del , CM000681.1:g.39064060_39064067del GRCh37
NC_000019.8:g.43755900_43755907del NCBI36
NG_008866.1:g.144721_144728del , LRG_766:g.144721_144728del

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1065+113_1065+120del
ENST00000688602.1:c.2462+113_2462+120del
ENST00000689936.1:c.2434+113_2434+120del
ENST00000359596.8:c.14129+113_14129+120del MANE Select ENSP00000352608.2:n.14129+113_14129+120del
ENST00000355481.8:c.14114+113_14114+120del ENSP00000347667.3:n.14114+113_14114+120del
ENST00000359596.7:c.14129+113_14129+120del ENSP00000352608.2:n.14129+113_14129+120del
ENST00000360985.7:c.14111+113_14111+120del ENSP00000354254.4:n.14111+113_14111+120del
NM_000540.2:c.14129+113_14129+120del , LRG_766t1:c.14129+113_14129+120del NP_000531.2:n.14129+113_14129+120del
NM_001042723.1:c.14114+113_14114+120del NP_001036188.1:n.14114+113_14114+120del
XM_006723317.1:c.14111+113_14111+120del XP_006723380.1:n.14111+113_14111+120del
XM_006723319.1:c.14096+113_14096+120del XP_006723382.1:n.14096+113_14096+120del
XM_011527204.1:c.14126+113_14126+120del XP_011525506.1:n.14126+113_14126+120del
XM_011527205.1:c.14042+113_14042+120del XP_011525507.1:n.14042+113_14042+120del
XM_006723317.2:c.14111+113_14111+120del XP_006723380.1:n.14111+113_14111+120del
XM_006723319.2:c.14096+113_14096+120del XP_006723382.1:n.14096+113_14096+120del
XM_011527205.2:c.14042+113_14042+120del XP_011525507.1:n.14042+113_14042+120del
NM_000540.3:c.14129+113_14129+120del MANE Select NP_000531.2:n.14129+113_14129+120del
NM_001042723.2:c.14114+113_14114+120del NP_001036188.1:n.14114+113_14114+120del
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