Canonical Allele Identifier: CA2697556499
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2756551
ClinVar RCV Id: RCV003591494
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38485751_38485752delinsGA , CM000681.2:g.38485751_38485752delinsGA GRCh38
NC_000019.9:g.38976391_38976392delinsGA , CM000681.1:g.38976391_38976392delinsGA GRCh37
NC_000019.8:g.43668231_43668232delinsGA NCBI36
NG_008866.1:g.57052_57053delinsGA , LRG_766:g.57052_57053delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.5096_5097delinsGA ENSP00000471601.2:p.Asp1699Gly
ENST00000359596.8:c.5096_5097delinsGA MANE Select ENSP00000352608.2:p.Asp1699Gly
ENST00000355481.8:c.5096_5097delinsGA ENSP00000347667.3:p.Asp1699Gly
ENST00000359596.7:c.5096_5097delinsGA ENSP00000352608.2:p.Asp1699Gly
ENST00000360985.7:c.5093_5094delinsGA ENSP00000354254.4:p.Asp1698Gly
NM_000540.2:c.5096_5097delinsGA , LRG_766t1:c.5096_5097delinsGA NP_000531.2:p.Asp1699Gly
NM_001042723.1:c.5096_5097delinsGA NP_001036188.1:p.Asp1699Gly
XM_006723317.1:c.5096_5097delinsGA XP_006723380.1:p.Asp1699Gly
XM_006723319.1:c.5096_5097delinsGA XP_006723382.1:p.Asp1699Gly
XM_011527204.1:c.5093_5094delinsGA XP_011525506.1:p.Asp1698Gly
XM_011527205.1:c.5096_5097delinsGA XP_011525507.1:p.Asp1699Gly
XM_006723317.2:c.5096_5097delinsGA XP_006723380.1:p.Asp1699Gly
XM_006723319.2:c.5096_5097delinsGA XP_006723382.1:p.Asp1699Gly
XM_011527205.2:c.5096_5097delinsGA XP_011525507.1:p.Asp1699Gly
XR_001753735.1:n.5179_5180delinsGA
NM_000540.3:c.5096_5097delinsGA MANE Select NP_000531.2:p.Asp1699Gly
NM_001042723.2:c.5096_5097delinsGA NP_001036188.1:p.Asp1699Gly
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