Canonical Allele Identifier: CA633066587
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 548508
dbSNP Id: rs1438501767

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38485795_38485797del , CM000681.2:g.38485795_38485797del GRCh38
NC_000019.9:g.38976435_38976437del , CM000681.1:g.38976435_38976437del GRCh37
NC_000019.8:g.43668275_43668277del NCBI36
NG_008866.1:g.57096_57098del , LRG_766:g.57096_57098del

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.5140_5142del ENSP00000471601.2:p.Leu1714del
ENST00000359596.8:c.5140_5142del MANE Select ENSP00000352608.2:p.Leu1714del
ENST00000355481.8:c.5140_5142del ENSP00000347667.3:p.Leu1714del
ENST00000359596.7:c.5140_5142del ENSP00000352608.2:p.Leu1714del
ENST00000360985.7:c.5137_5139del ENSP00000354254.4:p.Leu1713del
NM_000540.2:c.5140_5142del , LRG_766t1:c.5140_5142del NP_000531.2:p.Leu1714del
NM_001042723.1:c.5140_5142del NP_001036188.1:p.Leu1714del
XM_006723317.1:c.5140_5142del XP_006723380.1:p.Leu1714del
XM_006723319.1:c.5140_5142del XP_006723382.1:p.Leu1714del
XM_011527204.1:c.5137_5139del XP_011525506.1:p.Leu1713del
XM_011527205.1:c.5140_5142del XP_011525507.1:p.Leu1714del
XM_006723317.2:c.5140_5142del XP_006723380.1:p.Leu1714del
XM_006723319.2:c.5140_5142del XP_006723382.1:p.Leu1714del
XM_011527205.2:c.5140_5142del XP_011525507.1:p.Leu1714del
XR_001753735.1:n.5223_5225del
NM_000540.3:c.5140_5142del MANE Select NP_000531.2:p.Leu1714del
NM_001042723.2:c.5140_5142del NP_001036188.1:p.Leu1714del