Canonical Allele Identifier: CA066653
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs757680152
ExAC: 19:38976371 GC / G
gnomAD v2: 19-38976371-GC-G
gnomAD v4: 19-38485731-GC-G
MyVariant Identifiers: chr19:g.38976372del (hg19) chr19:g.38485732del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38485732del , CM000681.2:g.38485732del GRCh38
NC_000019.9:g.38976372del , CM000681.1:g.38976372del GRCh37
NC_000019.8:g.43668212del NCBI36
NG_008866.1:g.57033del , LRG_766:g.57033del

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.5077del ENSP00000471601.2:p.Leu1693CysfsTer?
ENST00000359596.8:c.5077del MANE Select ENSP00000352608.2:p.Leu1693CysfsTer?
ENST00000355481.8:c.5077del ENSP00000347667.3:p.Leu1693CysfsTer?
ENST00000359596.7:c.5077del ENSP00000352608.2:p.Leu1693CysfsTer?
ENST00000360985.7:c.5074del ENSP00000354254.4:p.Leu1692CysfsTer?
NM_000540.2:c.5077del , LRG_766t1:c.5077del NP_000531.2:p.Leu1693CysfsTer?
NM_001042723.1:c.5077del NP_001036188.1:p.Leu1693CysfsTer?
XM_006723317.1:c.5077del XP_006723380.1:p.Leu1693CysfsTer?
XM_006723319.1:c.5077del XP_006723382.1:p.Leu1693CysfsTer?
XM_011527204.1:c.5074del XP_011525506.1:p.Leu1692CysfsTer?
XM_011527205.1:c.5077del XP_011525507.1:p.Leu1693CysfsTer?
XM_006723317.2:c.5077del XP_006723380.1:p.Leu1693CysfsTer?
XM_006723319.2:c.5077del XP_006723382.1:p.Leu1693CysfsTer?
XM_011527205.2:c.5077del XP_011525507.1:p.Leu1693CysfsTer?
XR_001753735.1:n.5160del
NM_000540.3:c.5077del MANE Select NP_000531.2:p.Leu1693CysfsTer?
NM_001042723.2:c.5077del NP_001036188.1:p.Leu1693CysfsTer?
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