Canonical Allele Identifier: CA882062935
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1340936415
gnomAD v3: 19-38572950-AC-A
gnomAD v4: 19-38572950-AC-A
MyVariant Identifiers: chr19:g.39063591del (hg19) chr19:g.38572951del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38572956del , CM000681.2:g.38572956del GRCh38
NC_000019.9:g.39063596del , CM000681.1:g.39063596del GRCh37
NC_000019.8:g.43755436del NCBI36
NG_008866.1:g.144257del , LRG_766:g.144257del

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.935-221del
ENST00000688602.1:c.2332-221del
ENST00000689936.1:c.2304-221del
ENST00000359596.8:c.13999-221del MANE Select ENSP00000352608.2:n.13999-221del
ENST00000355481.8:c.13984-221del ENSP00000347667.3:n.13984-221del
ENST00000359596.7:c.13999-221del ENSP00000352608.2:n.13999-221del
ENST00000360985.7:c.13981-221del ENSP00000354254.4:n.13981-221del
NM_000540.2:c.13999-221del , LRG_766t1:c.13999-221del NP_000531.2:n.13999-221del
NM_001042723.1:c.13984-221del NP_001036188.1:n.13984-221del
XM_006723317.1:c.13981-221del XP_006723380.1:n.13981-221del
XM_006723319.1:c.13966-221del XP_006723382.1:n.13966-221del
XM_011527204.1:c.13996-221del XP_011525506.1:n.13996-221del
XM_011527205.1:c.13912-221del XP_011525507.1:n.13912-221del
XM_006723317.2:c.13981-221del XP_006723380.1:n.13981-221del
XM_006723319.2:c.13966-221del XP_006723382.1:n.13966-221del
XM_011527205.2:c.13912-221del XP_011525507.1:n.13912-221del
NM_000540.3:c.13999-221del MANE Select NP_000531.2:n.13999-221del
NM_001042723.2:c.13984-221del NP_001036188.1:n.13984-221del
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