Canonical Allele Identifier: CA2697556505

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2689894
• ClinVar RCV Id: RCV003491419

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38585054_38585074dup , CM000681.2:g.38585054_38585074dup	GRCh38
NC_000019.9:g.39075694_39075714dup , CM000681.1:g.39075694_39075714dup	GRCh37
NC_000019.8:g.43767534_43767554dup	NCBI36
NG_008866.1:g.156355_156375dup , LRG_766:g.156355_156375dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1694_1714dup
ENST00000688602.1:c.3091_3111dup
ENST00000689936.1:c.3063_3083dup
ENST00000692547.1:n.151_171dup
ENST00000359596.8:c.14758_14778dup MANE Select	ENSP00000352608.2:p.Ile4926_Val4927insThrPhePhePhePheValIle
ENST00000355481.8:c.14743_14763dup	ENSP00000347667.3:p.Ile4921_Val4922insThrPhePhePhePheValIle
ENST00000359596.7:c.14758_14778dup	ENSP00000352608.2:p.Ile4926_Val4927insThrPhePhePhePheValIle
ENST00000360985.7:c.14740_14760dup	ENSP00000354254.4:p.Ile4920_Val4921insThrPhePhePhePheValIle
NM_000540.2:c.14758_14778dup , LRG_766t1:c.14758_14778dup	NP_000531.2:p.Ile4926_Val4927insThrPhePhePhePheValIle
NM_001042723.1:c.14743_14763dup	NP_001036188.1:p.Ile4921_Val4922insThrPhePhePhePheValIle
XM_006723317.1:c.14740_14760dup	XP_006723380.1:p.Ile4920_Val4921insThrPhePhePhePheValIle
XM_006723319.1:c.14725_14745dup	XP_006723382.1:p.Ile4915_Val4916insThrPhePhePhePheValIle
XM_011527204.1:c.14755_14775dup	XP_011525506.1:p.Ile4925_Val4926insThrPhePhePhePheValIle
XM_011527205.1:c.14671_14691dup	XP_011525507.1:p.Ile4897_Val4898insThrPhePhePhePheValIle
XM_006723317.2:c.14740_14760dup	XP_006723380.1:p.Ile4920_Val4921insThrPhePhePhePheValIle
XM_006723319.2:c.14725_14745dup	XP_006723382.1:p.Ile4915_Val4916insThrPhePhePhePheValIle
XM_011527205.2:c.14671_14691dup	XP_011525507.1:p.Ile4897_Val4898insThrPhePhePhePheValIle
NM_000540.3:c.14758_14778dup MANE Select	NP_000531.2:p.Ile4926_Val4927insThrPhePhePhePheValIle
NM_001042723.2:c.14743_14763dup	NP_001036188.1:p.Ile4921_Val4922insThrPhePhePhePheValIle