Canonical Allele Identifier: CA2580097258

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2028090
• ClinVar RCV Id: RCV002889636

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584998_38585012dup , CM000681.2:g.38584998_38585012dup	GRCh38
NC_000019.9:g.39075638_39075652dup , CM000681.1:g.39075638_39075652dup	GRCh37
NC_000019.8:g.43767478_43767492dup	NCBI36
NG_008866.1:g.156299_156313dup , LRG_766:g.156299_156313dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1638_1652dup
ENST00000688602.1:c.3035_3049dup
ENST00000689936.1:c.3007_3021dup
ENST00000692547.1:n.95_109dup
ENST00000359596.8:c.14702_14716dup MANE Select	ENSP00000352608.2:p.Pro4905_Ala4906insGlu...
ENST00000355481.8:c.14687_14701dup	ENSP00000347667.3:p.Pro4900_Ala4901insGlu...
ENST00000359596.7:c.14702_14716dup	ENSP00000352608.2:p.Pro4905_Ala4906insGlu...
ENST00000360985.7:c.14684_14698dup	ENSP00000354254.4:p.Pro4899_Ala4900insGlu...
NM_000540.2:c.14702_14716dup , LRG_766t1:c.14702_14716dup	NP_000531.2:p.Pro4905_Ala4906insGluIleGlu...
NM_001042723.1:c.14687_14701dup	NP_001036188.1:p.Pro4900_Ala4901insGluIle...
XM_006723317.1:c.14684_14698dup	XP_006723380.1:p.Pro4899_Ala4900insGluIle...
XM_006723319.1:c.14669_14683dup	XP_006723382.1:p.Pro4894_Ala4895insGluIle...
XM_011527204.1:c.14699_14713dup	XP_011525506.1:p.Pro4904_Ala4905insGluIle...
XM_011527205.1:c.14615_14629dup	XP_011525507.1:p.Pro4876_Ala4877insGluIle...
XM_006723317.2:c.14684_14698dup	XP_006723380.1:p.Pro4899_Ala4900insGluIle...
XM_006723319.2:c.14669_14683dup	XP_006723382.1:p.Pro4894_Ala4895insGluIle...
XM_011527205.2:c.14615_14629dup	XP_011525507.1:p.Pro4876_Ala4877insGluIle...
NM_000540.3:c.14702_14716dup MANE Select	NP_000531.2:p.Pro4905_Ala4906insGluIleGlu...
NM_001042723.2:c.14687_14701dup	NP_001036188.1:p.Pro4900_Ala4901insGluIle...