Canonical Allele Identifier: CA2697556511

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2699104
• ClinVar RCV Id: RCV003592490

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565531_38565536dup , CM000681.2:g.38565531_38565536dup	GRCh38
NC_000019.9:g.39056171_39056176dup , CM000681.1:g.39056171_39056176dup	GRCh37
NC_000019.8:g.43748011_43748016dup	NCBI36
NG_008866.1:g.136832_136837dup , LRG_766:g.136832_136837dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.133_138dup
ENST00000688602.1:c.1607_1612dup
ENST00000689936.1:c.1589_1594dup
ENST00000359596.8:c.13197_13202dup MANE Select	ENSP00000352608.2:p.Gly4401_Asp4402insGlyGly
ENST00000355481.8:c.13182_13187dup	ENSP00000347667.3:p.Gly4396_Asp4397insGlyGly
ENST00000359596.7:c.13197_13202dup	ENSP00000352608.2:p.Gly4401_Asp4402insGlyGly
ENST00000360985.7:c.13179_13184dup	ENSP00000354254.4:p.Gly4395_Asp4396insGlyGly
NM_000540.2:c.13197_13202dup , LRG_766t1:c.13197_13202dup	NP_000531.2:p.Gly4401_Asp4402insGlyGly
NM_001042723.1:c.13182_13187dup	NP_001036188.1:p.Gly4396_Asp4397insGlyGly
XM_006723317.1:c.13179_13184dup	XP_006723380.1:p.Gly4395_Asp4396insGlyGly
XM_006723319.1:c.13164_13169dup	XP_006723382.1:p.Gly4390_Asp4391insGlyGly
XM_011527204.1:c.13194_13199dup	XP_011525506.1:p.Gly4400_Asp4401insGlyGly
XM_011527205.1:c.13197_13202dup	XP_011525507.1:p.Gly4401_Asp4402insGlyGly
XM_006723317.2:c.13179_13184dup	XP_006723380.1:p.Gly4395_Asp4396insGlyGly
XM_006723319.2:c.13164_13169dup	XP_006723382.1:p.Gly4390_Asp4391insGlyGly
XM_011527205.2:c.13197_13202dup	XP_011525507.1:p.Gly4401_Asp4402insGlyGly
NM_000540.3:c.13197_13202dup MANE Select	NP_000531.2:p.Gly4401_Asp4402insGlyGly
NM_001042723.2:c.13182_13187dup	NP_001036188.1:p.Gly4396_Asp4397insGlyGly