Canonical Allele Identifier: CA633066563
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1568483856
gnomAD v2: 19-38976189-CTCAT-C
gnomAD v4: 19-38485549-CTCAT-C
MyVariant Identifiers: chr19:g.38976190_38976193del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38485554_38485557del , CM000681.2:g.38485554_38485557del GRCh38
NC_000019.9:g.38976194_38976197del , CM000681.1:g.38976194_38976197del GRCh37
NC_000019.8:g.43668034_43668037del NCBI36
NG_008866.1:g.56855_56858del , LRG_766:g.56855_56858del

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.4935-36_4935-33del ENSP00000471601.2:n.4935-36_4935-33del
ENST00000359596.8:c.4935-36_4935-33del MANE Select ENSP00000352608.2:n.4935-36_4935-33del
ENST00000355481.8:c.4935-36_4935-33del ENSP00000347667.3:n.4935-36_4935-33del
ENST00000359596.7:c.4935-36_4935-33del ENSP00000352608.2:n.4935-36_4935-33del
ENST00000360985.7:c.4932-36_4932-33del ENSP00000354254.4:n.4932-36_4932-33del
NM_000540.2:c.4935-36_4935-33del , LRG_766t1:c.4935-36_4935-33del NP_000531.2:n.4935-36_4935-33del
NM_001042723.1:c.4935-36_4935-33del NP_001036188.1:n.4935-36_4935-33del
XM_006723317.1:c.4935-36_4935-33del XP_006723380.1:n.4935-36_4935-33del
XM_006723319.1:c.4935-36_4935-33del XP_006723382.1:n.4935-36_4935-33del
XM_011527204.1:c.4932-36_4932-33del XP_011525506.1:n.4932-36_4932-33del
XM_011527205.1:c.4935-36_4935-33del XP_011525507.1:n.4935-36_4935-33del
XM_006723317.2:c.4935-36_4935-33del XP_006723380.1:n.4935-36_4935-33del
XM_006723319.2:c.4935-36_4935-33del XP_006723382.1:n.4935-36_4935-33del
XM_011527205.2:c.4935-36_4935-33del XP_011525507.1:n.4935-36_4935-33del
XR_001753735.1:n.5018-36_5018-33del
NM_000540.3:c.4935-36_4935-33del MANE Select NP_000531.2:n.4935-36_4935-33del
NM_001042723.2:c.4935-36_4935-33del NP_001036188.1:n.4935-36_4935-33del
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