Canonical Allele Identifier: CA658658810

Gene: RYR1

Linked Data

• ClinVar Variation Id: 446415
• ClinVar RCV Id: RCV000515667
• dbSNP Id: rs1555806119
• MyVariant Identifiers: chr19:g.39077990_39077991del (hg19) ; chr19:g.38587350_38587351del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38587350_38587351del , CM000681.2:g.38587350_38587351del	GRCh38
NC_000019.9:g.39077990_39077991del , CM000681.1:g.39077990_39077991del	GRCh37
NC_000019.8:g.43769830_43769831del	NCBI36
NG_008866.1:g.158651_158652del , LRG_766:g.158651_158652del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1957+774_1957+775del
ENST00000688602.1:c.3380_3381del
ENST00000689936.1:c.3352_3353del
ENST00000692547.1:n.440_441del
ENST00000359596.8:c.15047_15048del MANE Select	ENSP00000352608.2:p.Gln5016ArgfsTer11
ENST00000355481.8:c.15032_15033del	ENSP00000347667.3:p.Gln5011ArgfsTer11
ENST00000359596.7:c.15047_15048del	ENSP00000352608.2:p.Gln5016ArgfsTer11
ENST00000360985.7:c.15029_15030del	ENSP00000354254.4:p.Gln5010ArgfsTer11
NM_000540.2:c.15047_15048del , LRG_766t1:c.15047_15048del	NP_000531.2:p.Gln5016ArgfsTer11
NM_001042723.1:c.15032_15033del	NP_001036188.1:p.Gln5011ArgfsTer11
XM_006723317.1:c.15029_15030del	XP_006723380.1:p.Gln5010ArgfsTer11
XM_006723319.1:c.15014_15015del	XP_006723382.1:p.Gln5005ArgfsTer11
XM_011527204.1:c.15044_15045del	XP_011525506.1:p.Gln5015ArgfsTer11
XM_011527205.1:c.14960_14961del	XP_011525507.1:p.Gln4987ArgfsTer11
XM_006723317.2:c.15029_15030del	XP_006723380.1:p.Gln5010ArgfsTer11
XM_006723319.2:c.15014_15015del	XP_006723382.1:p.Gln5005ArgfsTer11
XM_011527205.2:c.14960_14961del	XP_011525507.1:p.Gln4987ArgfsTer11
NM_000540.3:c.15047_15048del MANE Select	NP_000531.2:p.Gln5016ArgfsTer11
NM_001042723.2:c.15032_15033del	NP_001036188.1:p.Gln5011ArgfsTer11