Canonical Allele Identifier: CA024088

Gene: RYR1

Linked Data

• ClinVar Variation Id: 133054
• ClinVar RCV Id: RCV000119492
• dbSNP Id: rs193922861
• MyVariant Identifiers: chr19:g.39062853_39062858del (hg19) ; chr19:g.39062851_39062856del (hg19) ; chr19:g.38572213_38572218del (hg38) ; chr19:g.38572211_38572216del (hg38)
• PubMed: PMID:11709545

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572213_38572218del , CM000681.2:g.38572213_38572218del	GRCh38
NC_000019.9:g.39062853_39062858del , CM000681.1:g.39062853_39062858del	GRCh37
NC_000019.8:g.43754693_43754698del	NCBI36
NG_008866.1:g.143514_143519del , LRG_766:g.143514_143519del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.877_882del
ENST00000688602.1:c.2274_2279del
ENST00000689936.1:c.2246_2251del
ENST00000359596.8:c.13941_13946del MANE Select	ENSP00000352608.2:p.Ser4648_Leu4649del
ENST00000355481.8:c.13926_13931del	ENSP00000347667.3:p.Ser4643_Leu4644del
ENST00000359596.7:c.13941_13946del	ENSP00000352608.2:p.Ser4648_Leu4649del
ENST00000360985.7:c.13923_13928del	ENSP00000354254.4:p.Ser4642_Leu4643del
ENST00000593677.1:c.401_406del
NM_000540.2:c.13941_13946del , LRG_766t1:c.13941_13946del	NP_000531.2:p.Ser4648_Leu4649del
NM_001042723.1:c.13926_13931del	NP_001036188.1:p.Ser4643_Leu4644del
XM_006723317.1:c.13923_13928del	XP_006723380.1:p.Ser4642_Leu4643del
XM_006723319.1:c.13908_13913del	XP_006723382.1:p.Ser4637_Leu4638del
XM_011527204.1:c.13938_13943del	XP_011525506.1:p.Ser4647_Leu4648del
XM_011527205.1:c.13854_13859del	XP_011525507.1:p.Ser4619_Leu4620del
XM_006723317.2:c.13923_13928del	XP_006723380.1:p.Ser4642_Leu4643del
XM_006723319.2:c.13908_13913del	XP_006723382.1:p.Ser4637_Leu4638del
XM_011527205.2:c.13854_13859del	XP_011525507.1:p.Ser4619_Leu4620del
NM_000540.3:c.13941_13946del MANE Select	NP_000531.2:p.Ser4648_Leu4649del
NM_001042723.2:c.13926_13931del	NP_001036188.1:p.Ser4643_Leu4644del