Canonical Allele Identifier: CA2580097178

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1974115
• ClinVar RCV Id: RCV002741221

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565122_38565127del , CM000681.2:g.38565122_38565127del	GRCh38
NC_000019.9:g.39055762_39055767del , CM000681.1:g.39055762_39055767del	GRCh37
NC_000019.8:g.43747602_43747607del	NCBI36
NG_008866.1:g.136423_136428del , LRG_766:g.136423_136428del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1198_1203del
ENST00000689936.1:c.1180_1185del
ENST00000359596.8:c.12788_12793del MANE Select	ENSP00000352608.2:p.Glu4263_Gly4264del
ENST00000355481.8:c.12773_12778del	ENSP00000347667.3:p.Glu4258_Gly4259del
ENST00000359596.7:c.12788_12793del	ENSP00000352608.2:p.Glu4263_Gly4264del
ENST00000360985.7:c.12770_12775del	ENSP00000354254.4:p.Glu4257_Gly4258del
ENST00000594335.5:c.6157_6162del
NM_000540.2:c.12788_12793del , LRG_766t1:c.12788_12793del	NP_000531.2:p.Glu4263_Gly4264del
NM_001042723.1:c.12773_12778del	NP_001036188.1:p.Glu4258_Gly4259del
XM_006723317.1:c.12770_12775del	XP_006723380.1:p.Glu4257_Gly4258del
XM_006723319.1:c.12755_12760del	XP_006723382.1:p.Glu4252_Gly4253del
XM_011527204.1:c.12785_12790del	XP_011525506.1:p.Glu4262_Gly4263del
XM_011527205.1:c.12788_12793del	XP_011525507.1:p.Glu4263_Gly4264del
XM_006723317.2:c.12770_12775del	XP_006723380.1:p.Glu4257_Gly4258del
XM_006723319.2:c.12755_12760del	XP_006723382.1:p.Glu4252_Gly4253del
XM_011527205.2:c.12788_12793del	XP_011525507.1:p.Glu4263_Gly4264del
NM_000540.3:c.12788_12793del MANE Select	NP_000531.2:p.Glu4263_Gly4264del
NM_001042723.2:c.12773_12778del	NP_001036188.1:p.Glu4258_Gly4259del