Canonical Allele Identifier: CA405692199

Gene: RYR1

Linked Data

• ClinVar Variation Id: 590474
• ClinVar RCV Id: RCV000721403
• dbSNP Id: rs193922895
• MyVariant Identifiers: chr19:g.39076591C>G (hg19) ; chr19:g.38585951C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38585951C>G , CM000681.2:g.38585951C>G	GRCh38
NC_000019.9:g.39076591C>G , CM000681.1:g.39076591C>G	GRCh37
NC_000019.8:g.43768431C>G	NCBI36
NG_008866.1:g.157252C>G , LRG_766:g.157252C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1753C>G
ENST00000688602.1:c.3150C>G
ENST00000689936.1:c.3122C>G
ENST00000692547.1:n.210C>G
ENST00000359596.8:c.14817C>G MANE Select	ENSP00000352608.2:p.Asp4939Glu
ENST00000355481.8:c.14802C>G	ENSP00000347667.3:p.Asp4934Glu
ENST00000359596.7:c.14817C>G	ENSP00000352608.2:p.Asp4939Glu
ENST00000360985.7:c.14799C>G	ENSP00000354254.4:p.Asp4933Glu
NM_000540.2:c.14817C>G , LRG_766t1:c.14817C>G	NP_000531.2:p.Asp4939Glu
NM_001042723.1:c.14802C>G	NP_001036188.1:p.Asp4934Glu
XM_006723317.1:c.14799C>G	XP_006723380.1:p.Asp4933Glu
XM_006723319.1:c.14784C>G	XP_006723382.1:p.Asp4928Glu
XM_011527204.1:c.14814C>G	XP_011525506.1:p.Asp4938Glu
XM_011527205.1:c.14730C>G	XP_011525507.1:p.Asp4910Glu
XM_006723317.2:c.14799C>G	XP_006723380.1:p.Asp4933Glu
XM_006723319.2:c.14784C>G	XP_006723382.1:p.Asp4928Glu
XM_011527205.2:c.14730C>G	XP_011525507.1:p.Asp4910Glu
NM_000540.3:c.14817C>G MANE Select	NP_000531.2:p.Asp4939Glu
NM_001042723.2:c.14802C>G	NP_001036188.1:p.Asp4934Glu