Canonical Allele Identifier: CA2584908079

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2695835
• ClinVar RCV Id: RCV003592425
• gnomAD v4: 19-38543340-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543344del , CM000681.2:g.38543344del	GRCh38
NC_000019.9:g.39033984del , CM000681.1:g.39033984del	GRCh37
NC_000019.8:g.43725824del	NCBI36
NG_008866.1:g.114645del , LRG_766:g.114645del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.100-3del
ENST00000689936.1:c.82-3del
ENST00000359596.8:c.11690-3del MANE Select	ENSP00000352608.2:n.11690-3del
ENST00000355481.8:c.11675-3del	ENSP00000347667.3:n.11675-3del
ENST00000359596.7:c.11690-3del	ENSP00000352608.2:n.11690-3del
ENST00000360985.7:c.11672-3del	ENSP00000354254.4:n.11672-3del
ENST00000593322.1:c.299-3del
ENST00000594335.5:c.5059-3del
NM_000540.2:c.11690-3del , LRG_766t1:c.11690-3del	NP_000531.2:n.11690-3del
NM_001042723.1:c.11675-3del	NP_001036188.1:n.11675-3del
XM_006723317.1:c.11672-3del	XP_006723380.1:n.11672-3del
XM_006723319.1:c.11657-3del	XP_006723382.1:n.11657-3del
XM_011527204.1:c.11687-3del	XP_011525506.1:n.11687-3del
XM_011527205.1:c.11690-3del	XP_011525507.1:n.11690-3del
XM_006723317.2:c.11672-3del	XP_006723380.1:n.11672-3del
XM_006723319.2:c.11657-3del	XP_006723382.1:n.11657-3del
XM_011527205.2:c.11690-3del	XP_011525507.1:n.11690-3del
NM_000540.3:c.11690-3del MANE Select	NP_000531.2:n.11690-3del
NM_001042723.2:c.11675-3del	NP_001036188.1:n.11675-3del