Canonical Allele Identifier: CA891863127

Gene: RYR1

Linked Data

• ClinVar Variation Id: 590417
• ClinVar RCV Id: RCV000721292
• dbSNP Id: rs398123469
• gnomAD v3: 19-38565185-G-GCACGGCGGCCACGGCGGC
• gnomAD v4: 19-38565185-G-GCACGGCGGCCACGGCGGC
• MyVariant Identifiers: chr19:g.39055826_39055843dup (hg19) ; chr19:g.38565186_38565203dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565186_38565203dup , CM000681.2:g.38565186_38565203dup	GRCh38
NC_000019.9:g.39055826_39055843dup , CM000681.1:g.39055826_39055843dup	GRCh37
NC_000019.8:g.43747666_43747683dup	NCBI36
NG_008866.1:g.136487_136504dup , LRG_766:g.136487_136504dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1262_1279dup
ENST00000689936.1:c.1244_1261dup
ENST00000359596.8:c.12852_12869dup MANE Select	ENSP00000352608.2:p.Ala4290_Ala4291insThrAlaAlaThrAlaAla
ENST00000355481.8:c.12837_12854dup	ENSP00000347667.3:p.Ala4285_Ala4286insThrAlaAlaThrAlaAla
ENST00000359596.7:c.12852_12869dup	ENSP00000352608.2:p.Ala4290_Ala4291insThrAlaAlaThrAlaAla
ENST00000360985.7:c.12834_12851dup	ENSP00000354254.4:p.Ala4284_Ala4285insThrAlaAlaThrAlaAla
ENST00000594335.5:c.6221_6238dup
NM_000540.2:c.12852_12869dup , LRG_766t1:c.12852_12869dup	NP_000531.2:p.Ala4290_Ala4291insThrAlaAlaThrAlaAla
NM_001042723.1:c.12837_12854dup	NP_001036188.1:p.Ala4285_Ala4286insThrAlaAlaThrAlaAla
XM_006723317.1:c.12834_12851dup	XP_006723380.1:p.Ala4284_Ala4285insThrAlaAlaThrAlaAla
XM_006723319.1:c.12819_12836dup	XP_006723382.1:p.Ala4279_Ala4280insThrAlaAlaThrAlaAla
XM_011527204.1:c.12849_12866dup	XP_011525506.1:p.Ala4289_Ala4290insThrAlaAlaThrAlaAla
XM_011527205.1:c.12852_12869dup	XP_011525507.1:p.Ala4290_Ala4291insThrAlaAlaThrAlaAla
XM_006723317.2:c.12834_12851dup	XP_006723380.1:p.Ala4284_Ala4285insThrAlaAlaThrAlaAla
XM_006723319.2:c.12819_12836dup	XP_006723382.1:p.Ala4279_Ala4280insThrAlaAlaThrAlaAla
XM_011527205.2:c.12852_12869dup	XP_011525507.1:p.Ala4290_Ala4291insThrAlaAlaThrAlaAla
NM_000540.3:c.12852_12869dup MANE Select	NP_000531.2:p.Ala4290_Ala4291insThrAlaAlaThrAlaAla
NM_001042723.2:c.12837_12854dup	NP_001036188.1:p.Ala4285_Ala4286insThrAlaAlaThrAlaAla