Canonical Allele Identifier: CA507355949

Gene: RYR1

Linked Data

• ClinVar Variation Id: 478183
• ClinVar RCV Id: RCV000549587 ; RCV000780690 ; RCV002483513 ; RCV002510921
• dbSNP Id: rs1358102336
• gnomAD v2: 19-39056300-T-TGGGGGCCCCTTCCGGCCCGAA
• gnomAD v3: 19-38565660-T-TGGGGGCCCCTTCCGGCCCGAA
• gnomAD v4: 19-38565660-T-TGGGGGCCCCTTCCGGCCCGAA
• MyVariant Identifiers: chr19:g.39056305_39056325dup (hg19) ; chr19:g.39056300_39056301insGGGGGCCCCTTCCGGCCCGAA (hg19) ; chr19:g.38565665_38565685dup (hg38) ; chr19:g.38565660_38565661insGGGGGCCCCTTCCGGCCCGAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565665_38565685dup , CM000681.2:g.38565665_38565685dup	GRCh38
NC_000019.9:g.39056305_39056325dup , CM000681.1:g.39056305_39056325dup	GRCh37
NC_000019.8:g.43748145_43748165dup	NCBI36
NG_008866.1:g.136966_136986dup , LRG_766:g.136966_136986dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.267_287dup
ENST00000688602.1:c.1741_1761dup
ENST00000689936.1:c.1723_1743dup
ENST00000359596.8:c.13331_13351dup MANE Select	ENSP00000352608.2:p.Gly4450_Ala4451insGlyProPheArgProGluGly
ENST00000355481.8:c.13316_13336dup	ENSP00000347667.3:p.Gly4445_Ala4446insGlyProPheArgProGluGly
ENST00000359596.7:c.13331_13351dup	ENSP00000352608.2:p.Gly4450_Ala4451insGlyProPheArgProGluGly
ENST00000360985.7:c.13313_13333dup	ENSP00000354254.4:p.Gly4444_Ala4445insGlyProPheArgProGluGly
NM_000540.2:c.13331_13351dup , LRG_766t1:c.13331_13351dup	NP_000531.2:p.Gly4450_Ala4451insGlyProPheArgProGluGly
NM_001042723.1:c.13316_13336dup	NP_001036188.1:p.Gly4445_Ala4446insGlyProPheArgProGluGly
XM_006723317.1:c.13313_13333dup	XP_006723380.1:p.Gly4444_Ala4445insGlyProPheArgProGluGly
XM_006723319.1:c.13298_13318dup	XP_006723382.1:p.Gly4439_Ala4440insGlyProPheArgProGluGly
XM_011527204.1:c.13328_13348dup	XP_011525506.1:p.Gly4449_Ala4450insGlyProPheArgProGluGly
XM_011527205.1:c.13331_13351dup	XP_011525507.1:p.Gly4450_Ala4451insGlyProPheArgProGluGly
XM_006723317.2:c.13313_13333dup	XP_006723380.1:p.Gly4444_Ala4445insGlyProPheArgProGluGly
XM_006723319.2:c.13298_13318dup	XP_006723382.1:p.Gly4439_Ala4440insGlyProPheArgProGluGly
XM_011527205.2:c.13331_13351dup	XP_011525507.1:p.Gly4450_Ala4451insGlyProPheArgProGluGly
NM_000540.3:c.13331_13351dup MANE Select	NP_000531.2:p.Gly4450_Ala4451insGlyProPheArgProGluGly
NM_001042723.2:c.13316_13336dup	NP_001036188.1:p.Gly4445_Ala4446insGlyProPheArgProGluGly