Canonical Allele Identifier: CA2580613115

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1473663
• ClinVar RCV Id: RCV001970803 ; RCV004011029
• dbSNP Id: rs2145776584

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543862_38543864del , CM000681.2:g.38543862_38543864del	GRCh38
NC_000019.9:g.39034502_39034504del , CM000681.1:g.39034502_39034504del	GRCh37
NC_000019.8:g.43726342_43726344del	NCBI36
NG_008866.1:g.115163_115165del , LRG_766:g.115163_115165del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.409_411del
ENST00000689936.1:c.391_393del
ENST00000359596.8:c.11999_12001del MANE Select	ENSP00000352608.2:p.Met4000del
ENST00000355481.8:c.11984_11986del	ENSP00000347667.3:p.Met3995del
ENST00000359596.7:c.11999_12001del	ENSP00000352608.2:p.Met4000del
ENST00000360985.7:c.11981_11983del	ENSP00000354254.4:p.Met3994del
ENST00000593322.1:c.608_610del
ENST00000594335.5:c.5368_5370del
NM_000540.2:c.11999_12001del , LRG_766t1:c.11999_12001del	NP_000531.2:p.Met4000del
NM_001042723.1:c.11984_11986del	NP_001036188.1:p.Met3995del
XM_006723317.1:c.11981_11983del	XP_006723380.1:p.Met3994del
XM_006723319.1:c.11966_11968del	XP_006723382.1:p.Met3989del
XM_011527204.1:c.11996_11998del	XP_011525506.1:p.Met3999del
XM_011527205.1:c.11999_12001del	XP_011525507.1:p.Met4000del
XM_006723317.2:c.11981_11983del	XP_006723380.1:p.Met3994del
XM_006723319.2:c.11966_11968del	XP_006723382.1:p.Met3989del
XM_011527205.2:c.11999_12001del	XP_011525507.1:p.Met4000del
NM_000540.3:c.11999_12001del MANE Select	NP_000531.2:p.Met4000del
NM_001042723.2:c.11984_11986del	NP_001036188.1:p.Met3995del