Canonical Allele Identifier: CA915953152

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1696863
• ClinVar RCV Id: RCV002267209
• dbSNP Id: rs1599634685
• gnomAD v4: 19-38565186-C-CACGGCGGCCACG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565187_38565198dup , CM000681.2:g.38565187_38565198dup	GRCh38
NC_000019.9:g.39055827_39055838dup , CM000681.1:g.39055827_39055838dup	GRCh37
NC_000019.8:g.43747667_43747678dup	NCBI36
NG_008866.1:g.136488_136499dup , LRG_766:g.136488_136499dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1263_1274dup
ENST00000689936.1:c.1245_1256dup
ENST00000359596.8:c.12853_12864dup MANE Select	ENSP00000352608.2:p.Thr4288_Ala4289insThrAlaAlaThr
ENST00000355481.8:c.12838_12849dup	ENSP00000347667.3:p.Thr4283_Ala4284insThrAlaAlaThr
ENST00000359596.7:c.12853_12864dup	ENSP00000352608.2:p.Thr4288_Ala4289insThrAlaAlaThr
ENST00000360985.7:c.12835_12846dup	ENSP00000354254.4:p.Thr4282_Ala4283insThrAlaAlaThr
ENST00000594335.5:c.6222_6233dup
NM_000540.2:c.12853_12864dup , LRG_766t1:c.12853_12864dup	NP_000531.2:p.Thr4288_Ala4289insThrAlaAlaThr
NM_001042723.1:c.12838_12849dup	NP_001036188.1:p.Thr4283_Ala4284insThrAlaAlaThr
XM_006723317.1:c.12835_12846dup	XP_006723380.1:p.Thr4282_Ala4283insThrAlaAlaThr
XM_006723319.1:c.12820_12831dup	XP_006723382.1:p.Thr4277_Ala4278insThrAlaAlaThr
XM_011527204.1:c.12850_12861dup	XP_011525506.1:p.Thr4287_Ala4288insThrAlaAlaThr
XM_011527205.1:c.12853_12864dup	XP_011525507.1:p.Thr4288_Ala4289insThrAlaAlaThr
XM_006723317.2:c.12835_12846dup	XP_006723380.1:p.Thr4282_Ala4283insThrAlaAlaThr
XM_006723319.2:c.12820_12831dup	XP_006723382.1:p.Thr4277_Ala4278insThrAlaAlaThr
XM_011527205.2:c.12853_12864dup	XP_011525507.1:p.Thr4288_Ala4289insThrAlaAlaThr
NM_000540.3:c.12853_12864dup MANE Select	NP_000531.2:p.Thr4288_Ala4289insThrAlaAlaThr
NM_001042723.2:c.12838_12849dup	NP_001036188.1:p.Thr4283_Ala4284insThrAlaAlaThr