Canonical Allele Identifier: CA995731621

Gene: RYR1

Linked Data

• dbSNP Id: rs1973352114
• gnomAD v3: 19-38565305-C-CAGT
• gnomAD v4: 19-38565305-C-CAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565305_38565306insAGT , CM000681.2:g.38565305_38565306insAGT	GRCh38
NC_000019.9:g.39055945_39055946insAGT , CM000681.1:g.39055945_39055946insAGT	GRCh37
NC_000019.8:g.43747785_43747786insAGT	NCBI36
NG_008866.1:g.136606_136607insAGT , LRG_766:g.136606_136607insAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1381_1382insAGT
ENST00000689936.1:c.1363_1364insAGT
ENST00000359596.8:c.12971_12972insAGT MANE Select	ENSP00000352608.2:p.Thr4324_Ala4325insVal
ENST00000355481.8:c.12956_12957insAGT	ENSP00000347667.3:p.Thr4319_Ala4320insVal
ENST00000359596.7:c.12971_12972insAGT	ENSP00000352608.2:p.Thr4324_Ala4325insVal
ENST00000360985.7:c.12953_12954insAGT	ENSP00000354254.4:p.Thr4318_Ala4319insVal
NM_000540.2:c.12971_12972insAGT , LRG_766t1:c.12971_12972insAGT	NP_000531.2:p.Thr4324_Ala4325insVal
NM_001042723.1:c.12956_12957insAGT	NP_001036188.1:p.Thr4319_Ala4320insVal
XM_006723317.1:c.12953_12954insAGT	XP_006723380.1:p.Thr4318_Ala4319insVal
XM_006723319.1:c.12938_12939insAGT	XP_006723382.1:p.Thr4313_Ala4314insVal
XM_011527204.1:c.12968_12969insAGT	XP_011525506.1:p.Thr4323_Ala4324insVal
XM_011527205.1:c.12971_12972insAGT	XP_011525507.1:p.Thr4324_Ala4325insVal
XM_006723317.2:c.12953_12954insAGT	XP_006723380.1:p.Thr4318_Ala4319insVal
XM_006723319.2:c.12938_12939insAGT	XP_006723382.1:p.Thr4313_Ala4314insVal
XM_011527205.2:c.12971_12972insAGT	XP_011525507.1:p.Thr4324_Ala4325insVal
NM_000540.3:c.12971_12972insAGT MANE Select	NP_000531.2:p.Thr4324_Ala4325insVal
NM_001042723.2:c.12956_12957insAGT	NP_001036188.1:p.Thr4319_Ala4320insVal