Canonical Allele Identifier: CA405682446

Gene: RYR1

Linked Data

• ClinVar Variation Id: 948134
• ClinVar RCV Id: RCV001219333 ; RCV004010726
• dbSNP Id: rs1248688892
• gnomAD v3: 19-38573263-C-A
• gnomAD v4: 19-38573263-C-A
• MyVariant Identifiers: chr19:g.39063903C>A (hg19) ; chr19:g.38573263C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573263C>A , CM000681.2:g.38573263C>A	GRCh38
NC_000019.9:g.39063903C>A , CM000681.1:g.39063903C>A	GRCh37
NC_000019.8:g.43755743C>A	NCBI36
NG_008866.1:g.144564C>A , LRG_766:g.144564C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1021C>A
ENST00000688602.1:c.2418C>A
ENST00000689936.1:c.2390C>A
ENST00000359596.8:c.14085C>A MANE Select	ENSP00000352608.2:p.Asp4695Glu
ENST00000355481.8:c.14070C>A	ENSP00000347667.3:p.Asp4690Glu
ENST00000359596.7:c.14085C>A	ENSP00000352608.2:p.Asp4695Glu
ENST00000360985.7:c.14067C>A	ENSP00000354254.4:p.Asp4689Glu
NM_000540.2:c.14085C>A , LRG_766t1:c.14085C>A	NP_000531.2:p.Asp4695Glu
NM_001042723.1:c.14070C>A	NP_001036188.1:p.Asp4690Glu
XM_006723317.1:c.14067C>A	XP_006723380.1:p.Asp4689Glu
XM_006723319.1:c.14052C>A	XP_006723382.1:p.Asp4684Glu
XM_011527204.1:c.14082C>A	XP_011525506.1:p.Asp4694Glu
XM_011527205.1:c.13998C>A	XP_011525507.1:p.Asp4666Glu
XM_006723317.2:c.14067C>A	XP_006723380.1:p.Asp4689Glu
XM_006723319.2:c.14052C>A	XP_006723382.1:p.Asp4684Glu
XM_011527205.2:c.13998C>A	XP_011525507.1:p.Asp4666Glu
NM_000540.3:c.14085C>A MANE Select	NP_000531.2:p.Asp4695Glu
NM_001042723.2:c.14070C>A	NP_001036188.1:p.Asp4690Glu