Canonical Allele Identifier: CA2335082471

Gene: RYR1

Linked Data

• dbSNP Id: rs1973109947

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38561055_38561063del , CM000681.2:g.38561055_38561063del	GRCh38
NC_000019.9:g.39051695_39051703del , CM000681.1:g.39051695_39051703del	GRCh37
NC_000019.8:g.43743535_43743543del	NCBI36
NG_008866.1:g.132356_132364del , LRG_766:g.132356_132364del

Transcript Alleles

HGVS	Amino-acid change
ENST00000688602.1:c.693-58_693-50del
ENST00000689936.1:c.675-58_675-50del
ENST00000359596.8:c.12283-58_12283-50del MANE Select	ENSP00000352608.2:n.12283-58_12283-50del
ENST00000355481.8:c.12268-58_12268-50del	ENSP00000347667.3:n.12268-58_12268-50del
ENST00000359596.7:c.12283-58_12283-50del	ENSP00000352608.2:n.12283-58_12283-50del
ENST00000360985.7:c.12265-58_12265-50del	ENSP00000354254.4:n.12265-58_12265-50del
ENST00000594335.5:c.5652-58_5652-50del
NM_000540.2:c.12283-58_12283-50del , LRG_766t1:c.12283-58_12283-50del	NP_000531.2:n.12283-58_12283-50del
NM_001042723.1:c.12268-58_12268-50del	NP_001036188.1:n.12268-58_12268-50del
XM_006723317.1:c.12265-58_12265-50del	XP_006723380.1:n.12265-58_12265-50del
XM_006723319.1:c.12250-58_12250-50del	XP_006723382.1:n.12250-58_12250-50del
XM_011527204.1:c.12280-58_12280-50del	XP_011525506.1:n.12280-58_12280-50del
XM_011527205.1:c.12283-58_12283-50del	XP_011525507.1:n.12283-58_12283-50del
XM_006723317.2:c.12265-58_12265-50del	XP_006723380.1:n.12265-58_12265-50del
XM_006723319.2:c.12250-58_12250-50del	XP_006723382.1:n.12250-58_12250-50del
XM_011527205.2:c.12283-58_12283-50del	XP_011525507.1:n.12283-58_12283-50del
NM_000540.3:c.12283-58_12283-50del MANE Select	NP_000531.2:n.12283-58_12283-50del
NM_001042723.2:c.12268-58_12268-50del	NP_001036188.1:n.12268-58_12268-50del