Canonical Allele Identifier: CA915952941

Gene: RYR1

Linked Data

• ClinVar Variation Id: 817204
• ClinVar RCV Id: RCV001008316
• dbSNP Id: rs1600683021

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38457595del , CM000681.2:g.38457595del	GRCh38
NC_000019.9:g.38948235del , CM000681.1:g.38948235del	GRCh37
NC_000019.8:g.43640075del	NCBI36
NG_008866.1:g.28896del , LRG_766:g.28896del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.1890del	ENSP00000471601.2:p.Leu631CysfsTer?
ENST00000359596.8:c.1890del MANE Select	ENSP00000352608.2:p.Leu631CysfsTer?
ENST00000355481.8:c.1890del	ENSP00000347667.3:p.Leu631CysfsTer?
ENST00000359596.7:c.1890del	ENSP00000352608.2:p.Leu631CysfsTer?
ENST00000360985.7:c.1890del	ENSP00000354254.4:p.Leu631CysfsTer?
NM_000540.2:c.1890del , LRG_766t1:c.1890del	NP_000531.2:p.Leu631CysfsTer?
NM_001042723.1:c.1890del	NP_001036188.1:p.Leu631CysfsTer?
XM_006723317.1:c.1890del	XP_006723380.1:p.Leu631CysfsTer?
XM_006723319.1:c.1890del	XP_006723382.1:p.Leu631CysfsTer?
XM_011527204.1:c.1887del	XP_011525506.1:p.Leu630CysfsTer?
XM_011527205.1:c.1890del	XP_011525507.1:p.Leu631CysfsTer?
XM_006723317.2:c.1890del	XP_006723380.1:p.Leu631CysfsTer?
XM_006723319.2:c.1890del	XP_006723382.1:p.Leu631CysfsTer?
XM_011527205.2:c.1890del	XP_011525507.1:p.Leu631CysfsTer?
XR_001753735.1:n.1973del
NM_000540.3:c.1890del MANE Select	NP_000531.2:p.Leu631CysfsTer?
NM_001042723.2:c.1890del	NP_001036188.1:p.Leu631CysfsTer?