Canonical Allele Identifier: CA308120533
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs913617759

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578400del , CM000681.2:g.38578400del GRCh38
NC_000019.9:g.39069040del , CM000681.1:g.39069040del GRCh37
NC_000019.8:g.43760880del NCBI36
NG_008866.1:g.149701del , LRG_766:g.149701del

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1300+196del
ENST00000688602.1:c.2697+196del
ENST00000689936.1:c.2669+196del
ENST00000359596.8:c.14364+196del MANE Select ENSP00000352608.2:n.14364+196del
ENST00000355481.8:c.14349+196del ENSP00000347667.3:n.14349+196del
ENST00000359596.7:c.14364+196del ENSP00000352608.2:n.14364+196del
ENST00000360985.7:c.14346+196del ENSP00000354254.4:n.14346+196del
NM_000540.2:c.14364+196del , LRG_766t1:c.14364+196del NP_000531.2:n.14364+196del
NM_001042723.1:c.14349+196del NP_001036188.1:n.14349+196del
XM_006723317.1:c.14346+196del XP_006723380.1:n.14346+196del
XM_006723319.1:c.14331+196del XP_006723382.1:n.14331+196del
XM_011527204.1:c.14361+196del XP_011525506.1:n.14361+196del
XM_011527205.1:c.14277+196del XP_011525507.1:n.14277+196del
XM_006723317.2:c.14346+196del XP_006723380.1:n.14346+196del
XM_006723319.2:c.14331+196del XP_006723382.1:n.14331+196del
XM_011527205.2:c.14277+196del XP_011525507.1:n.14277+196del
NM_000540.3:c.14364+196del MANE Select NP_000531.2:n.14364+196del
NM_001042723.2:c.14349+196del NP_001036188.1:n.14349+196del