Canonical Allele Identifier: CA632878455

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1213455
• ClinVar RCV Id: RCV001591627
• dbSNP Id: rs60733320
• gnomAD v2: 19-39077895-A-AATAT
• gnomAD v3: 19-38587255-A-AATAT
• gnomAD v4: 19-38587255-A-AATAT
• MyVariant Identifiers: chr19:g.39077897_39077898insATAT (hg19) ; chr19:g.39077895_39077896insATAT (hg19) ; chr19:g.38587257_38587258insATAT (hg38) ; chr19:g.38587255_38587256insATAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38587268_38587271dup , CM000681.2:g.38587268_38587271dup	GRCh38
NC_000019.9:g.39077908_39077911dup , CM000681.1:g.39077908_39077911dup	GRCh37
NC_000019.8:g.43769748_43769751dup	NCBI36
NG_008866.1:g.158569_158572dup , LRG_766:g.158569_158572dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1957+692_1957+695dup
ENST00000688602.1:c.3355-57_3355-54dup
ENST00000689936.1:c.3327-57_3327-54dup
ENST00000692547.1:n.415-57_415-54dup
ENST00000359596.8:c.15022-57_15022-54dup MANE Select	ENSP00000352608.2:n.15022-57_15022-54dup
ENST00000355481.8:c.15007-57_15007-54dup	ENSP00000347667.3:n.15007-57_15007-54dup
ENST00000359596.7:c.15022-57_15022-54dup	ENSP00000352608.2:n.15022-57_15022-54dup
ENST00000360985.7:c.15004-57_15004-54dup	ENSP00000354254.4:n.15004-57_15004-54dup
NM_000540.2:c.15022-57_15022-54dup , LRG_766t1:c.15022-57_15022-54dup	NP_000531.2:n.15022-57_15022-54dup
NM_001042723.1:c.15007-57_15007-54dup	NP_001036188.1:n.15007-57_15007-54dup
XM_006723317.1:c.15004-57_15004-54dup	XP_006723380.1:n.15004-57_15004-54dup
XM_006723319.1:c.14989-57_14989-54dup	XP_006723382.1:n.14989-57_14989-54dup
XM_011527204.1:c.15019-57_15019-54dup	XP_011525506.1:n.15019-57_15019-54dup
XM_011527205.1:c.14935-57_14935-54dup	XP_011525507.1:n.14935-57_14935-54dup
XM_006723317.2:c.15004-57_15004-54dup	XP_006723380.1:n.15004-57_15004-54dup
XM_006723319.2:c.14989-57_14989-54dup	XP_006723382.1:n.14989-57_14989-54dup
XM_011527205.2:c.14935-57_14935-54dup	XP_011525507.1:n.14935-57_14935-54dup
NM_000540.3:c.15022-57_15022-54dup MANE Select	NP_000531.2:n.15022-57_15022-54dup
NM_001042723.2:c.15007-57_15007-54dup	NP_001036188.1:n.15007-57_15007-54dup