Canonical Allele Identifier: CA995731632

Gene: RYR1

Linked Data

• dbSNP Id: rs1973353557
• gnomAD v3: 19-38565320-CCA-C
• gnomAD v4: 19-38565320-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565322_38565323del , CM000681.2:g.38565322_38565323del	GRCh38
NC_000019.9:g.39055962_39055963del , CM000681.1:g.39055962_39055963del	GRCh37
NC_000019.8:g.43747802_43747803del	NCBI36
NG_008866.1:g.136623_136624del , LRG_766:g.136623_136624del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1398_1399del
ENST00000689936.1:c.1380_1381del
ENST00000359596.8:c.12988_12989del MANE Select	ENSP00000352608.2:p.Thr4330ArgfsTer?
ENST00000355481.8:c.12973_12974del	ENSP00000347667.3:p.Thr4325ArgfsTer?
ENST00000359596.7:c.12988_12989del	ENSP00000352608.2:p.Thr4330ArgfsTer?
ENST00000360985.7:c.12970_12971del	ENSP00000354254.4:p.Thr4324ArgfsTer?
NM_000540.2:c.12988_12989del , LRG_766t1:c.12988_12989del	NP_000531.2:p.Thr4330ArgfsTer?
NM_001042723.1:c.12973_12974del	NP_001036188.1:p.Thr4325ArgfsTer?
XM_006723317.1:c.12970_12971del	XP_006723380.1:p.Thr4324ArgfsTer?
XM_006723319.1:c.12955_12956del	XP_006723382.1:p.Thr4319ArgfsTer?
XM_011527204.1:c.12985_12986del	XP_011525506.1:p.Thr4329ArgfsTer?
XM_011527205.1:c.12988_12989del	XP_011525507.1:p.Thr4330ArgfsTer?
XM_006723317.2:c.12970_12971del	XP_006723380.1:p.Thr4324ArgfsTer?
XM_006723319.2:c.12955_12956del	XP_006723382.1:p.Thr4319ArgfsTer?
XM_011527205.2:c.12988_12989del	XP_011525507.1:p.Thr4330ArgfsTer?
NM_000540.3:c.12988_12989del MANE Select	NP_000531.2:p.Thr4330ArgfsTer?
NM_001042723.2:c.12973_12974del	NP_001036188.1:p.Thr4325ArgfsTer?