Canonical Allele Identifier: CA308109404

Gene: RYR1

Linked Data

• ClinVar Variation Id: 544390
• ClinVar RCV Id: RCV000655515 ; RCV000721300 ; RCV002507137
• dbSNP Id: rs193922846
• gnomAD v2: 19-39055923-GTGCGGCGGC-G
• gnomAD v3: 19-38565283-GTGCGGCGGC-G
• gnomAD v4: 19-38565283-GTGCGGCGGC-G
• MyVariant Identifiers: chr19:g.39055934_39055942del (hg19) ; chr19:g.39055924_39055932del (hg19) ; chr19:g.38565294_38565302del (hg38) ; chr19:g.38565284_38565292del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565294_38565302del , CM000681.2:g.38565294_38565302del	GRCh38
NC_000019.9:g.39055934_39055942del , CM000681.1:g.39055934_39055942del	GRCh37
NC_000019.8:g.43747774_43747782del	NCBI36
NG_008866.1:g.136595_136603del , LRG_766:g.136595_136603del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1370_1378del
ENST00000689936.1:c.1352_1360del
ENST00000359596.8:c.12960_12968del MANE Select	ENSP00000352608.2:p.Arg4321_Leu4323del
ENST00000355481.8:c.12945_12953del	ENSP00000347667.3:p.Arg4316_Leu4318del
ENST00000359596.7:c.12960_12968del	ENSP00000352608.2:p.Arg4321_Leu4323del
ENST00000360985.7:c.12942_12950del	ENSP00000354254.4:p.Arg4315_Leu4317del
NM_000540.2:c.12960_12968del , LRG_766t1:c.12960_12968del	NP_000531.2:p.Arg4321_Leu4323del
NM_001042723.1:c.12945_12953del	NP_001036188.1:p.Arg4316_Leu4318del
XM_006723317.1:c.12942_12950del	XP_006723380.1:p.Arg4315_Leu4317del
XM_006723319.1:c.12927_12935del	XP_006723382.1:p.Arg4310_Leu4312del
XM_011527204.1:c.12957_12965del	XP_011525506.1:p.Arg4320_Leu4322del
XM_011527205.1:c.12960_12968del	XP_011525507.1:p.Arg4321_Leu4323del
XM_006723317.2:c.12942_12950del	XP_006723380.1:p.Arg4315_Leu4317del
XM_006723319.2:c.12927_12935del	XP_006723382.1:p.Arg4310_Leu4312del
XM_011527205.2:c.12960_12968del	XP_011525507.1:p.Arg4321_Leu4323del
NM_000540.3:c.12960_12968del MANE Select	NP_000531.2:p.Arg4321_Leu4323del
NM_001042723.2:c.12945_12953del	NP_001036188.1:p.Arg4316_Leu4318del