Canonical Allele Identifier: CA2584905495

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38527000_38527001del , CM000681.2:g.38527000_38527001del	GRCh38
NC_000019.9:g.39017640_39017641del , CM000681.1:g.39017640_39017641del	GRCh37
NC_000019.8:g.43709480_43709481del	NCBI36
NG_008866.1:g.98301_98302del , LRG_766:g.98301_98302del

Transcript Alleles

HGVS	Amino-acid Change
NM_000540.3:c.10634_10635del MANE Select	NP_000531.2:p.Thr3545ArgfsTer2
ENST00000359596.8:c.10634_10635del MANE Select	ENSP00000352608.2:p.Thr3545ArgfsTer2
NM_000540.2:c.10634_10635del , LRG_766t1:c.10634_10635del	NP_000531.2:p.Thr3545ArgfsTer2
NM_001042723.1:c.10619_10620del	NP_001036188.1:p.Thr3540ArgfsTer2
NM_001042723.2:c.10619_10620del	NP_001036188.1:p.Thr3540ArgfsTer2
ENST00000355481.8:c.10619_10620del	ENSP00000347667.3:p.Thr3540ArgfsTer2
ENST00000359596.7:c.10634_10635del	ENSP00000352608.2:p.Thr3545ArgfsTer2
ENST00000360985.7:c.10616_10617del	ENSP00000354254.4:p.Thr3539ArgfsTer2
ENST00000594335.5:c.4021_4022del
ENST00000599547.5:c.1441_1442del
ENST00000599547.6:c.10573_10574del	ENSP00000471601.2:n.10573_10574del
XM_006723317.1:c.10634_10635del	XP_006723380.1:p.Thr3545ArgfsTer2
XM_006723317.2:c.10634_10635del	XP_006723380.1:p.Thr3545ArgfsTer2
XM_006723319.1:c.10619_10620del	XP_006723382.1:p.Thr3540ArgfsTer2
XM_006723319.2:c.10619_10620del	XP_006723382.1:p.Thr3540ArgfsTer2
XM_011527204.1:c.10631_10632del	XP_011525506.1:p.Thr3544ArgfsTer2
XM_011527205.1:c.10634_10635del	XP_011525507.1:p.Thr3545ArgfsTer2
XM_011527205.2:c.10634_10635del	XP_011525507.1:p.Thr3545ArgfsTer2
XR_001753936.1:n.526_527del