Canonical Allele Identifier: CA2573054759

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1325029
• ClinVar RCV Id: RCV001783706
• dbSNP Id: rs2145845399
• gnomAD v4: 19-38565363-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565367del , CM000681.2:g.38565367del	GRCh38
NC_000019.9:g.39056007del , CM000681.1:g.39056007del	GRCh37
NC_000019.8:g.43747847del	NCBI36
NG_008866.1:g.136668del , LRG_766:g.136668del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1443del
ENST00000689936.1:c.1425del
ENST00000359596.8:c.13033del MANE Select	ENSP00000352608.2:p.Ala4345ProfsTer30
ENST00000355481.8:c.13018del	ENSP00000347667.3:p.Ala4340ProfsTer30
ENST00000359596.7:c.13033del	ENSP00000352608.2:p.Ala4345ProfsTer30
ENST00000360985.7:c.13015del	ENSP00000354254.4:p.Ala4339ProfsTer30
NM_000540.2:c.13033del , LRG_766t1:c.13033del	NP_000531.2:p.Ala4345ProfsTer30
NM_001042723.1:c.13018del	NP_001036188.1:p.Ala4340ProfsTer30
XM_006723317.1:c.13015del	XP_006723380.1:p.Ala4339ProfsTer30
XM_006723319.1:c.13000del	XP_006723382.1:p.Ala4334ProfsTer30
XM_011527204.1:c.13030del	XP_011525506.1:p.Ala4344ProfsTer30
XM_011527205.1:c.13033del	XP_011525507.1:p.Ala4345ProfsTer30
XM_006723317.2:c.13015del	XP_006723380.1:p.Ala4339ProfsTer30
XM_006723319.2:c.13000del	XP_006723382.1:p.Ala4334ProfsTer30
XM_011527205.2:c.13033del	XP_011525507.1:p.Ala4345ProfsTer30
NM_000540.3:c.13033del MANE Select	NP_000531.2:p.Ala4345ProfsTer30
NM_001042723.2:c.13018del	NP_001036188.1:p.Ala4340ProfsTer30