Canonical Allele Identifier: CA024196

Gene: RYR1

Linked Data

• ClinVar Variation Id: 66004
• ClinVar RCV Id: RCV000056251 ; RCV000119535
• dbSNP Id: rs118192146
• MyVariant Identifiers: chr19:g.39071089A>G (hg19) ; chr19:g.38580449A>G (hg38)
• PubMed: PMID:14670767 ; PMID:20301565

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580449A>G , CM000681.2:g.38580449A>G	GRCh38
NC_000019.9:g.39071089A>G , CM000681.1:g.39071089A>G	GRCh37
NC_000019.8:g.43762929A>G	NCBI36
NG_008866.1:g.151750A>G , LRG_766:g.151750A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1527A>G
ENST00000688602.1:c.2924A>G
ENST00000689936.1:c.2896A>G
ENST00000359596.8:c.14591A>G MANE Select	ENSP00000352608.2:p.Tyr4864Cys
ENST00000355481.8:c.14576A>G	ENSP00000347667.3:p.Tyr4859Cys
ENST00000359596.7:c.14591A>G	ENSP00000352608.2:p.Tyr4864Cys
ENST00000360985.7:c.14573A>G	ENSP00000354254.4:p.Tyr4858Cys
NM_000540.2:c.14591A>G , LRG_766t1:c.14591A>G	NP_000531.2:p.Tyr4864Cys
NM_001042723.1:c.14576A>G	NP_001036188.1:p.Tyr4859Cys
XM_006723317.1:c.14573A>G	XP_006723380.1:p.Tyr4858Cys
XM_006723319.1:c.14558A>G	XP_006723382.1:p.Tyr4853Cys
XM_011527204.1:c.14588A>G	XP_011525506.1:p.Tyr4863Cys
XM_011527205.1:c.14504A>G	XP_011525507.1:p.Tyr4835Cys
XM_006723317.2:c.14573A>G	XP_006723380.1:p.Tyr4858Cys
XM_006723319.2:c.14558A>G	XP_006723382.1:p.Tyr4853Cys
XM_011527205.2:c.14504A>G	XP_011525507.1:p.Tyr4835Cys
NM_000540.3:c.14591A>G MANE Select	NP_000531.2:p.Tyr4864Cys
NM_001042723.2:c.14576A>G	NP_001036188.1:p.Tyr4859Cys