Canonical Allele Identifier: CA1139666423

Gene: RYR1

Linked Data

• ClinVar Variation Id: 947006
• ClinVar RCV Id: RCV001217983
• dbSNP Id: rs1970195017

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502731_38502732insGGCGGGGCAGGCTTCAGGGTGG , CM000681.2:g.38502731_38502732insGGCGGGGCAGGCTTCAGGGTGG	GRCh38
NC_000019.9:g.38993371_38993372insGGCGGGGCAGGCTTCAGGGTGG , CM000681.1:g.38993371_38993372insGGCGGGGCAGGCTTCAGGGTGG	GRCh37
NC_000019.8:g.43685211_43685212insGGCGGGGCAGGCTTCAGGGTGG	NCBI36
NG_008866.1:g.74032_74033insGGCGGGGCAGGCTTCAGGGTGG , LRG_766:g.74032_74033insGGCGGGGCAGGCTTCAGGGTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7835+4_7835+5insGGCGGGGCAGGCTTCAGGGTGG
ENST00000359596.8:c.7835+4_7835+5insGGCGGGGCAGGCTTCAGGGTGG
ENST00000355481.8:c.7835+4_7835+5insGGCGGGGCAGGCTTCAGGGTGG
ENST00000359596.7:c.7835+4_7835+5insGGCGGGGCAGGCTTCAGGGTGG
ENST00000360985.7:c.7832+4_7832+5insGGCGGGGCAGGCTTCAGGGTGG
ENST00000594335.5:c.1287+4_1287+5insGGCGGGGCAGGCTTCAGGGTGG
NM_000540.2:c.7835+4_7835+5insGGCGGGGCAGGCTTCAGGGTGG , LRG_766t1:c.7835+4_7835+5insGGCGGGGCAGGCTTCAGGGTGG
NM_001042723.1:c.7835+4_7835+5insGGCGGGGCAGGCTTCAGGGTGG
XM_006723317.1:c.7835+4_7835+5insGGCGGGGCAGGCTTCAGGGTGG
XM_006723319.1:c.7835+4_7835+5insGGCGGGGCAGGCTTCAGGGTGG
XM_011527204.1:c.7832+4_7832+5insGGCGGGGCAGGCTTCAGGGTGG
XM_011527205.1:c.7835+4_7835+5insGGCGGGGCAGGCTTCAGGGTGG
XM_006723317.2:c.7835+4_7835+5insGGCGGGGCAGGCTTCAGGGTGG
XM_006723319.2:c.7835+4_7835+5insGGCGGGGCAGGCTTCAGGGTGG
XM_011527205.2:c.7835+4_7835+5insGGCGGGGCAGGCTTCAGGGTGG
XR_001753735.1:n.7918+4_7918+5insGGCGGGGCAGGCTTCAGGGTGG
NM_000540.3:c.7835+4_7835+5insGGCGGGGCAGGCTTCAGGGTGG
NM_001042723.2:c.7835+4_7835+5insGGCGGGGCAGGCTTCAGGGTGG