Canonical Allele Identifier: CA995715423

Gene: RYR1

Linked Data

• dbSNP Id: rs1969999946
• gnomAD v3: 19-38499506-C-CCCTAGAGGTGTTGGGTCCTGTGGCTGGCAGTGTTGGATCCTGGGGCTGGCAGGGGCCTGGTGTTACT
• gnomAD v4: 19-38499506-C-CCCTAGAGGTGTTGGGTCCTGTGGCTGGCAGTGTTGGATCCTGGGGCTGGCAGGGGCCTGGTGTTACT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38499506_38499507insCCTAGAGGTGTTGGGTCCTGTGGCTGGCAGTGTTGGATCCTGGGGCTGGCAGGGGCCTGGTGTTACT , CM000681.2:g.38499506_38499507insCCTAGAGGTGTTGGGTCCTGTGGCTGGCAGTGTTGGATCCTGGGGCTGGCAGGGGCCTGGTGTTACT	GRCh38
NC_000019.9:g.38990146_38990147insCCTAGAGGTGTTGGGTCCTGTGGCTGGCAGTGTTGGATCCTGGGGCTGGCAGGGGCCTGGTGTTACT , CM000681.1:g.38990146_38990147insCCTAGAGGTGTTGGGTCCTGTGGCTGGCAGTGTTGGATCCTGGGGCTGGCAGGGGCCTGGTGTTACT	GRCh37
NC_000019.8:g.43681986_43681987insCCTAGAGGTGTTGGGTCCTGTGGCTGGCAGTGTTGGATCCTGGGGCTGGCAGGGGCCTGGTGTTACT	NCBI36
NG_008866.1:g.70807_70808insCCTAGAGGTGTTGGGTCCTGTGGCTGGCAGTGTTGGATCCTGGGGCTGGCAGGGGCCTGGTGTTACT , LRG_766:g.70807_70808insCCTAGAGGTGTTGGGTCCTGTGGCTGGCAGTGTTGGATCCTGGGGCTGGCAGGGGCCTGGTGTTACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7028-129_7028-128insCCTAGAGGTGTTGGGTCCTGTGGCTGGCAGTGTTGGATCCTGGGGCTGGCAGGGGCCTGGTGTTACT	ENSP00000471601.2:n.7028-129_7028-128insCCTAGAGGTGTTGGGTCCTGT...
ENST00000359596.8:c.7028-129_7028-128insCCTAGAGGTGTTGGGTCCTGTGGCTGGCAGTGTTGGATCCTGGGGCTGGCAGGGGCCTGGTGTTACT MANE Select	ENSP00000352608.2:n.7028-129_7028-128insCCTAGAGGTGTTGGGTCCTGT...
ENST00000355481.8:c.7028-129_7028-128insCCTAGAGGTGTTGGGTCCTGTGGCTGGCAGTGTTGGATCCTGGGGCTGGCAGGGGCCTGGTGTTACT	ENSP00000347667.3:n.7028-129_7028-128insCCTAGAGGTGTTGGGTCCTGT...
ENST00000359596.7:c.7028-129_7028-128insCCTAGAGGTGTTGGGTCCTGTGGCTGGCAGTGTTGGATCCTGGGGCTGGCAGGGGCCTGGTGTTACT	ENSP00000352608.2:n.7028-129_7028-128insCCTAGAGGTGTTGGGTCCTGT...
ENST00000360985.7:c.7025-129_7025-128insCCTAGAGGTGTTGGGTCCTGTGGCTGGCAGTGTTGGATCCTGGGGCTGGCAGGGGCCTGGTGTTACT	ENSP00000354254.4:n.7025-129_7025-128insCCTAGAGGTGTTGGGTCCTGT...
ENST00000594335.5:c.480-129_480-128insCCTAGAGGTGTTGGGTCCTGTGGCTGGCAGTGTTGGATCCTGGGGCTGGCAGGGGCCTGGTGTTACT
NM_000540.2:c.7028-129_7028-128insCCTAGAGGTGTTGGGTCCTGTGGCTGGCAGTGTTGGATCCTGGGGCTGGCAGGGGCCTGGTGTTACT , LRG_766t1:c.7028-129_7028-128insCCTAGAGGTGTTGGGTCCTGTGGCTGGCAGTGTTGGATCCTGGGGCTGGCAGGGGCCTGGTGTTACT	NP_000531.2:n.7028-129_7028-128insCCTAGAGGTGTTGGGTCCTGTGGCTGG...
NM_001042723.1:c.7028-129_7028-128insCCTAGAGGTGTTGGGTCCTGTGGCTGGCAGTGTTGGATCCTGGGGCTGGCAGGGGCCTGGTGTTACT	NP_001036188.1:n.7028-129_7028-128insCCTAGAGGTGTTGGGTCCTGTGGC...
XM_006723317.1:c.7028-129_7028-128insCCTAGAGGTGTTGGGTCCTGTGGCTGGCAGTGTTGGATCCTGGGGCTGGCAGGGGCCTGGTGTTACT	XP_006723380.1:n.7028-129_7028-128insCCTAGAGGTGTTGGGTCCTGTGGC...
XM_006723319.1:c.7028-129_7028-128insCCTAGAGGTGTTGGGTCCTGTGGCTGGCAGTGTTGGATCCTGGGGCTGGCAGGGGCCTGGTGTTACT	XP_006723382.1:n.7028-129_7028-128insCCTAGAGGTGTTGGGTCCTGTGGC...
XM_011527204.1:c.7025-129_7025-128insCCTAGAGGTGTTGGGTCCTGTGGCTGGCAGTGTTGGATCCTGGGGCTGGCAGGGGCCTGGTGTTACT	XP_011525506.1:n.7025-129_7025-128insCCTAGAGGTGTTGGGTCCTGTGGC...
XM_011527205.1:c.7028-129_7028-128insCCTAGAGGTGTTGGGTCCTGTGGCTGGCAGTGTTGGATCCTGGGGCTGGCAGGGGCCTGGTGTTACT	XP_011525507.1:n.7028-129_7028-128insCCTAGAGGTGTTGGGTCCTGTGGC...
XM_006723317.2:c.7028-129_7028-128insCCTAGAGGTGTTGGGTCCTGTGGCTGGCAGTGTTGGATCCTGGGGCTGGCAGGGGCCTGGTGTTACT	XP_006723380.1:n.7028-129_7028-128insCCTAGAGGTGTTGGGTCCTGTGGC...
XM_006723319.2:c.7028-129_7028-128insCCTAGAGGTGTTGGGTCCTGTGGCTGGCAGTGTTGGATCCTGGGGCTGGCAGGGGCCTGGTGTTACT	XP_006723382.1:n.7028-129_7028-128insCCTAGAGGTGTTGGGTCCTGTGGC...
XM_011527205.2:c.7028-129_7028-128insCCTAGAGGTGTTGGGTCCTGTGGCTGGCAGTGTTGGATCCTGGGGCTGGCAGGGGCCTGGTGTTACT	XP_011525507.1:n.7028-129_7028-128insCCTAGAGGTGTTGGGTCCTGTGGC...
XR_001753735.1:n.7111-129_7111-128insCCTAGAGGTGTTGGGTCCTGTGGCTGGCAGTGTTGGATCCTGGGGCTGGCAGGGGCCTGGTGTTACT
NM_000540.3:c.7028-129_7028-128insCCTAGAGGTGTTGGGTCCTGTGGCTGGCAGTGTTGGATCCTGGGGCTGGCAGGGGCCTGGTGTTACT MANE Select	NP_000531.2:n.7028-129_7028-128insCCTAGAGGTGTTGGGTCCTGTGGCTGG...
NM_001042723.2:c.7028-129_7028-128insCCTAGAGGTGTTGGGTCCTGTGGCTGGCAGTGTTGGATCCTGGGGCTGGCAGGGGCCTGGTGTTACT	NP_001036188.1:n.7028-129_7028-128insCCTAGAGGTGTTGGGTCCTGTGGC...