Canonical Allele Identifier: CA2573156337

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1434640
• ClinVar RCV Id: RCV001955045
• dbSNP Id: rs2145896356

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580386_38580394del , CM000681.2:g.38580386_38580394del	GRCh38
NC_000019.9:g.39071026_39071034del , CM000681.1:g.39071026_39071034del	GRCh37
NC_000019.8:g.43762866_43762874del	NCBI36
NG_008866.1:g.151687_151695del , LRG_766:g.151687_151695del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1464_1472del
ENST00000688602.1:c.2861_2869del
ENST00000689936.1:c.2833_2841del
ENST00000359596.8:c.14528_14536del MANE Select	ENSP00000352608.2:p.Gly4843_Leu4845del
ENST00000355481.8:c.14513_14521del	ENSP00000347667.3:p.Gly4838_Leu4840del
ENST00000359596.7:c.14528_14536del	ENSP00000352608.2:p.Gly4843_Leu4845del
ENST00000360985.7:c.14510_14518del	ENSP00000354254.4:p.Gly4837_Leu4839del
NM_000540.2:c.14528_14536del , LRG_766t1:c.14528_14536del	NP_000531.2:p.Gly4843_Leu4845del
NM_001042723.1:c.14513_14521del	NP_001036188.1:p.Gly4838_Leu4840del
XM_006723317.1:c.14510_14518del	XP_006723380.1:p.Gly4837_Leu4839del
XM_006723319.1:c.14495_14503del	XP_006723382.1:p.Gly4832_Leu4834del
XM_011527204.1:c.14525_14533del	XP_011525506.1:p.Gly4842_Leu4844del
XM_011527205.1:c.14441_14449del	XP_011525507.1:p.Gly4814_Leu4816del
XM_006723317.2:c.14510_14518del	XP_006723380.1:p.Gly4837_Leu4839del
XM_006723319.2:c.14495_14503del	XP_006723382.1:p.Gly4832_Leu4834del
XM_011527205.2:c.14441_14449del	XP_011525507.1:p.Gly4814_Leu4816del
NM_000540.3:c.14528_14536del MANE Select	NP_000531.2:p.Gly4843_Leu4845del
NM_001042723.2:c.14513_14521del	NP_001036188.1:p.Gly4838_Leu4840del