Canonical Allele Identifier: CA2335092407

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580317_38580318delinsTG , CM000681.2:g.38580317_38580318delinsTG	GRCh38
NC_000019.9:g.39070957_39070958delinsTG , CM000681.1:g.39070957_39070958delinsTG	GRCh37
NC_000019.8:g.43762797_43762798delinsTG	NCBI36
NG_008866.1:g.151618_151619delinsTG , LRG_766:g.151618_151619delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1448-53_1448-52delinsTG
ENST00000688602.1:c.2845-53_2845-52delinsTG
ENST00000689936.1:c.2817-53_2817-52delinsTG
ENST00000359596.8:c.14512-53_14512-52delinsTG MANE Select	ENSP00000352608.2:n.14512-53_14512-52delinsTG
ENST00000355481.8:c.14497-53_14497-52delinsTG	ENSP00000347667.3:n.14497-53_14497-52delinsTG
ENST00000359596.7:c.14512-53_14512-52delinsTG	ENSP00000352608.2:n.14512-53_14512-52delinsTG
ENST00000360985.7:c.14494-53_14494-52delinsTG	ENSP00000354254.4:n.14494-53_14494-52delinsTG
NM_000540.2:c.14512-53_14512-52delinsTG , LRG_766t1:c.14512-53_14512-52delinsTG	NP_000531.2:n.14512-53_14512-52delinsTG
NM_001042723.1:c.14497-53_14497-52delinsTG	NP_001036188.1:n.14497-53_14497-52delinsTG
XM_006723317.1:c.14494-53_14494-52delinsTG	XP_006723380.1:n.14494-53_14494-52delinsTG
XM_006723319.1:c.14479-53_14479-52delinsTG	XP_006723382.1:n.14479-53_14479-52delinsTG
XM_011527204.1:c.14509-53_14509-52delinsTG	XP_011525506.1:n.14509-53_14509-52delinsTG
XM_011527205.1:c.14425-53_14425-52delinsTG	XP_011525507.1:n.14425-53_14425-52delinsTG
XM_006723317.2:c.14494-53_14494-52delinsTG	XP_006723380.1:n.14494-53_14494-52delinsTG
XM_006723319.2:c.14479-53_14479-52delinsTG	XP_006723382.1:n.14479-53_14479-52delinsTG
XM_011527205.2:c.14425-53_14425-52delinsTG	XP_011525507.1:n.14425-53_14425-52delinsTG
NM_000540.3:c.14512-53_14512-52delinsTG MANE Select	NP_000531.2:n.14512-53_14512-52delinsTG
NM_001042723.2:c.14497-53_14497-52delinsTG	NP_001036188.1:n.14497-53_14497-52delinsTG