Canonical Allele Identifier: CA915952998

Gene: RYR1

Linked Data

• ClinVar Variation Id: 657538
• ClinVar RCV Id: RCV000814160
• dbSNP Id: rs1600832922
• gnomAD v4: 19-38502675-CTCACCAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502676_38502683del , CM000681.2:g.38502676_38502683del	GRCh38
NC_000019.9:g.38993316_38993323del , CM000681.1:g.38993316_38993323del	GRCh37
NC_000019.8:g.43685156_43685163del	NCBI36
NG_008866.1:g.73977_73984del , LRG_766:g.73977_73984del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7784_7791del	ENSP00000471601.2:p.Leu2595ArgfsTer4
ENST00000359596.8:c.7784_7791del MANE Select	ENSP00000352608.2:p.Leu2595ArgfsTer4
ENST00000355481.8:c.7784_7791del	ENSP00000347667.3:p.Leu2595ArgfsTer4
ENST00000359596.7:c.7784_7791del	ENSP00000352608.2:p.Leu2595ArgfsTer4
ENST00000360985.7:c.7781_7788del	ENSP00000354254.4:p.Leu2594ArgfsTer4
ENST00000594335.5:c.1236_1243del
NM_000540.2:c.7784_7791del , LRG_766t1:c.7784_7791del	NP_000531.2:p.Leu2595ArgfsTer4
NM_001042723.1:c.7784_7791del	NP_001036188.1:p.Leu2595ArgfsTer4
XM_006723317.1:c.7784_7791del	XP_006723380.1:p.Leu2595ArgfsTer4
XM_006723319.1:c.7784_7791del	XP_006723382.1:p.Leu2595ArgfsTer4
XM_011527204.1:c.7781_7788del	XP_011525506.1:p.Leu2594ArgfsTer4
XM_011527205.1:c.7784_7791del	XP_011525507.1:p.Leu2595ArgfsTer4
XM_006723317.2:c.7784_7791del	XP_006723380.1:p.Leu2595ArgfsTer4
XM_006723319.2:c.7784_7791del	XP_006723382.1:p.Leu2595ArgfsTer4
XM_011527205.2:c.7784_7791del	XP_011525507.1:p.Leu2595ArgfsTer4
XR_001753735.1:n.7867_7874del
NM_000540.3:c.7784_7791del MANE Select	NP_000531.2:p.Leu2595ArgfsTer4
NM_001042723.2:c.7784_7791del	NP_001036188.1:p.Leu2595ArgfsTer4