Canonical Allele Identifier: CA2814346640

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586256_38586257insCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGC , CM000681.2:g.38586256_38586257insCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGC	GRCh38
NC_000019.9:g.39076896_39076897insCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGC , CM000681.1:g.39076896_39076897insCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGC	GRCh37
NC_000019.8:g.43768736_43768737insCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGC	NCBI36
NG_008866.1:g.157557_157558insCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGC , LRG_766:g.157557_157558insCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1905+65_1905+66insCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGC
ENST00000688602.1:c.3302+65_3302+66insCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGC
ENST00000689936.1:c.3274+65_3274+66insCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGC
ENST00000692547.1:n.362+65_362+66insCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGC
ENST00000359596.8:c.14969+65_14969+66insCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGC MANE Select	ENSP00000352608.2:n.14969+65_14969+66insCTCGCTCTGTTGCCCGGGCCA...
ENST00000355481.8:c.14954+65_14954+66insCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGC	ENSP00000347667.3:n.14954+65_14954+66insCTCGCTCTGTTGCCCGGGCCA...
ENST00000359596.7:c.14969+65_14969+66insCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGC	ENSP00000352608.2:n.14969+65_14969+66insCTCGCTCTGTTGCCCGGGCCA...
ENST00000360985.7:c.14951+65_14951+66insCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGC	ENSP00000354254.4:n.14951+65_14951+66insCTCGCTCTGTTGCCCGGGCCA...
NM_000540.2:c.14969+65_14969+66insCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGC , LRG_766t1:c.14969+65_14969+66insCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGC	NP_000531.2:n.14969+65_14969+66insCTCGCTCTGTTGCCCGGGCCAGAGTTC...
NM_001042723.1:c.14954+65_14954+66insCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGC	NP_001036188.1:n.14954+65_14954+66insCTCGCTCTGTTGCCCGGGCCAGAG...
XM_006723317.1:c.14951+65_14951+66insCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGC	XP_006723380.1:n.14951+65_14951+66insCTCGCTCTGTTGCCCGGGCCAGAG...
XM_006723319.1:c.14936+65_14936+66insCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGC	XP_006723382.1:n.14936+65_14936+66insCTCGCTCTGTTGCCCGGGCCAGAG...
XM_011527204.1:c.14966+65_14966+66insCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGC	XP_011525506.1:n.14966+65_14966+66insCTCGCTCTGTTGCCCGGGCCAGAG...
XM_011527205.1:c.14882+65_14882+66insCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGC	XP_011525507.1:n.14882+65_14882+66insCTCGCTCTGTTGCCCGGGCCAGAG...
XM_006723317.2:c.14951+65_14951+66insCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGC	XP_006723380.1:n.14951+65_14951+66insCTCGCTCTGTTGCCCGGGCCAGAG...
XM_006723319.2:c.14936+65_14936+66insCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGC	XP_006723382.1:n.14936+65_14936+66insCTCGCTCTGTTGCCCGGGCCAGAG...
XM_011527205.2:c.14882+65_14882+66insCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGC	XP_011525507.1:n.14882+65_14882+66insCTCGCTCTGTTGCCCGGGCCAGAG...
NM_000540.3:c.14969+65_14969+66insCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGC MANE Select	NP_000531.2:n.14969+65_14969+66insCTCGCTCTGTTGCCCGGGCCAGAGTTC...
NM_001042723.2:c.14954+65_14954+66insCTCGCTCTGTTGCCCGGGCCAGAGTTCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGATTAGCTGGGACTACAGGC	NP_001036188.1:n.14954+65_14954+66insCTCGCTCTGTTGCCCGGGCCAGAG...