Canonical Allele Identifier: CA2335096073

Gene: RYR1

Linked Data

• dbSNP Id: rs1974537685
• gnomAD v4: 19-38587260-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38587260A>G , CM000681.2:g.38587260A>G	GRCh38
NC_000019.9:g.39077900A>G , CM000681.1:g.39077900A>G	GRCh37
NC_000019.8:g.43769740A>G	NCBI36
NG_008866.1:g.158561A>G , LRG_766:g.158561A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1957+684A>G
ENST00000688602.1:c.3355-65A>G
ENST00000689936.1:c.3327-65A>G
ENST00000692547.1:n.415-65A>G
ENST00000359596.8:c.15022-65A>G MANE Select	ENSP00000352608.2:n.15022-65A>G
ENST00000355481.8:c.15007-65A>G	ENSP00000347667.3:n.15007-65A>G
ENST00000359596.7:c.15022-65A>G	ENSP00000352608.2:n.15022-65A>G
ENST00000360985.7:c.15004-65A>G	ENSP00000354254.4:n.15004-65A>G
NM_000540.2:c.15022-65A>G , LRG_766t1:c.15022-65A>G	NP_000531.2:n.15022-65A>G
NM_001042723.1:c.15007-65A>G	NP_001036188.1:n.15007-65A>G
XM_006723317.1:c.15004-65A>G	XP_006723380.1:n.15004-65A>G
XM_006723319.1:c.14989-65A>G	XP_006723382.1:n.14989-65A>G
XM_011527204.1:c.15019-65A>G	XP_011525506.1:n.15019-65A>G
XM_011527205.1:c.14935-65A>G	XP_011525507.1:n.14935-65A>G
XM_006723317.2:c.15004-65A>G	XP_006723380.1:n.15004-65A>G
XM_006723319.2:c.14989-65A>G	XP_006723382.1:n.14989-65A>G
XM_011527205.2:c.14935-65A>G	XP_011525507.1:n.14935-65A>G
NM_000540.3:c.15022-65A>G MANE Select	NP_000531.2:n.15022-65A>G
NM_001042723.2:c.15007-65A>G	NP_001036188.1:n.15007-65A>G