Canonical Allele Identifier: CA2335096116

Gene: RYR1

Linked Data

• dbSNP Id: rs1974544082

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38587350_38587353del , CM000681.2:g.38587350_38587353del	GRCh38
NC_000019.9:g.39077990_39077993del , CM000681.1:g.39077990_39077993del	GRCh37
NC_000019.8:g.43769830_43769833del	NCBI36
NG_008866.1:g.158651_158654del , LRG_766:g.158651_158654del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1957+774_1957+777del
ENST00000688602.1:c.3380_3383del
ENST00000689936.1:c.3352_3355del
ENST00000692547.1:n.440_443del
ENST00000359596.8:c.15047_15050del MANE Select	ENSP00000352608.2:p.Gln5016ArgfsTer?
ENST00000355481.8:c.15032_15035del	ENSP00000347667.3:p.Gln5011ArgfsTer?
ENST00000359596.7:c.15047_15050del	ENSP00000352608.2:p.Gln5016ArgfsTer?
ENST00000360985.7:c.15029_15032del	ENSP00000354254.4:p.Gln5010ArgfsTer?
NM_000540.2:c.15047_15050del , LRG_766t1:c.15047_15050del	NP_000531.2:p.Gln5016ArgfsTer?
NM_001042723.1:c.15032_15035del	NP_001036188.1:p.Gln5011ArgfsTer?
XM_006723317.1:c.15029_15032del	XP_006723380.1:p.Gln5010ArgfsTer?
XM_006723319.1:c.15014_15017del	XP_006723382.1:p.Gln5005ArgfsTer?
XM_011527204.1:c.15044_15047del	XP_011525506.1:p.Gln5015ArgfsTer?
XM_011527205.1:c.14960_14963del	XP_011525507.1:p.Gln4987ArgfsTer?
XM_006723317.2:c.15029_15032del	XP_006723380.1:p.Gln5010ArgfsTer?
XM_006723319.2:c.15014_15017del	XP_006723382.1:p.Gln5005ArgfsTer?
XM_011527205.2:c.14960_14963del	XP_011525507.1:p.Gln4987ArgfsTer?
NM_000540.3:c.15047_15050del MANE Select	NP_000531.2:p.Gln5016ArgfsTer?
NM_001042723.2:c.15032_15035del	NP_001036188.1:p.Gln5011ArgfsTer?