Canonical Allele Identifier: CA632878118

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1504120
• ClinVar RCV Id: RCV002025952 ; RCV003319503
• dbSNP Id: rs1568613455
• gnomAD v2: 19-39076796-TCA-T
• gnomAD v4: 19-38586156-TCA-T
• MyVariant Identifiers: chr19:g.39076797_39076798del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586160_38586161del , CM000681.2:g.38586160_38586161del	GRCh38
NC_000019.9:g.39076800_39076801del , CM000681.1:g.39076800_39076801del	GRCh37
NC_000019.8:g.43768640_43768641del	NCBI36
NG_008866.1:g.157461_157462del , LRG_766:g.157461_157462del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1874_1875del
ENST00000688602.1:c.3271_3272del
ENST00000689936.1:c.3243_3244del
ENST00000692547.1:n.331_332del
ENST00000359596.8:c.14938_14939del MANE Select	ENSP00000352608.2:p.Thr4980AlafsTer21
ENST00000355481.8:c.14923_14924del	ENSP00000347667.3:p.Thr4975AlafsTer21
ENST00000359596.7:c.14938_14939del	ENSP00000352608.2:p.Thr4980AlafsTer21
ENST00000360985.7:c.14920_14921del	ENSP00000354254.4:p.Thr4974AlafsTer21
NM_000540.2:c.14938_14939del , LRG_766t1:c.14938_14939del	NP_000531.2:p.Thr4980AlafsTer21
NM_001042723.1:c.14923_14924del	NP_001036188.1:p.Thr4975AlafsTer21
XM_006723317.1:c.14920_14921del	XP_006723380.1:p.Thr4974AlafsTer21
XM_006723319.1:c.14905_14906del	XP_006723382.1:p.Thr4969AlafsTer21
XM_011527204.1:c.14935_14936del	XP_011525506.1:p.Thr4979AlafsTer21
XM_011527205.1:c.14851_14852del	XP_011525507.1:p.Thr4951AlafsTer21
XM_006723317.2:c.14920_14921del	XP_006723380.1:p.Thr4974AlafsTer21
XM_006723319.2:c.14905_14906del	XP_006723382.1:p.Thr4969AlafsTer21
XM_011527205.2:c.14851_14852del	XP_011525507.1:p.Thr4951AlafsTer21
NM_000540.3:c.14938_14939del MANE Select	NP_000531.2:p.Thr4980AlafsTer21
NM_001042723.2:c.14923_14924del	NP_001036188.1:p.Thr4975AlafsTer21