Canonical Allele Identifier: CA2335096070

Gene: RYR1

Linked Data

• dbSNP Id: rs1974537538
• gnomAD v3: 19-38587257-T-TAC
• gnomAD v4: 19-38587257-T-TAC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38587258_38587259insCA , CM000681.2:g.38587258_38587259insCA	GRCh38
NC_000019.9:g.39077898_39077899insCA , CM000681.1:g.39077898_39077899insCA	GRCh37
NC_000019.8:g.43769738_43769739insCA	NCBI36
NG_008866.1:g.158559_158560insCA , LRG_766:g.158559_158560insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1957+682_1957+683insCA
ENST00000688602.1:c.3355-67_3355-66insCA
ENST00000689936.1:c.3327-67_3327-66insCA
ENST00000692547.1:n.415-67_415-66insCA
ENST00000359596.8:c.15022-67_15022-66insCA MANE Select	ENSP00000352608.2:n.15022-67_15022-66insCA
ENST00000355481.8:c.15007-67_15007-66insCA	ENSP00000347667.3:n.15007-67_15007-66insCA
ENST00000359596.7:c.15022-67_15022-66insCA	ENSP00000352608.2:n.15022-67_15022-66insCA
ENST00000360985.7:c.15004-67_15004-66insCA	ENSP00000354254.4:n.15004-67_15004-66insCA
NM_000540.2:c.15022-67_15022-66insCA , LRG_766t1:c.15022-67_15022-66insCA	NP_000531.2:n.15022-67_15022-66insCA
NM_001042723.1:c.15007-67_15007-66insCA	NP_001036188.1:n.15007-67_15007-66insCA
XM_006723317.1:c.15004-67_15004-66insCA	XP_006723380.1:n.15004-67_15004-66insCA
XM_006723319.1:c.14989-67_14989-66insCA	XP_006723382.1:n.14989-67_14989-66insCA
XM_011527204.1:c.15019-67_15019-66insCA	XP_011525506.1:n.15019-67_15019-66insCA
XM_011527205.1:c.14935-67_14935-66insCA	XP_011525507.1:n.14935-67_14935-66insCA
XM_006723317.2:c.15004-67_15004-66insCA	XP_006723380.1:n.15004-67_15004-66insCA
XM_006723319.2:c.14989-67_14989-66insCA	XP_006723382.1:n.14989-67_14989-66insCA
XM_011527205.2:c.14935-67_14935-66insCA	XP_011525507.1:n.14935-67_14935-66insCA
NM_000540.3:c.15022-67_15022-66insCA MANE Select	NP_000531.2:n.15022-67_15022-66insCA
NM_001042723.2:c.15007-67_15007-66insCA	NP_001036188.1:n.15007-67_15007-66insCA