Canonical Allele Identifier: CA2697556552

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2716234
• ClinVar RCV Id: RCV003592790

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38510500_38510510del , CM000681.2:g.38510500_38510510del	GRCh38
NC_000019.9:g.39001140_39001150del , CM000681.1:g.39001140_39001150del	GRCh37
NC_000019.8:g.43692980_43692990del	NCBI36
NG_008866.1:g.81801_81811del , LRG_766:g.81801_81811del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.8935_8945del	ENSP00000471601.2:p.Ala2979GlnfsTer10
ENST00000359596.8:c.8935_8945del MANE Select	ENSP00000352608.2:p.Ala2979GlnfsTer10
ENST00000355481.8:c.8935_8945del	ENSP00000347667.3:p.Ala2979GlnfsTer10
ENST00000359596.7:c.8935_8945del	ENSP00000352608.2:p.Ala2979GlnfsTer10
ENST00000360985.7:c.8932_8942del	ENSP00000354254.4:p.Ala2978GlnfsTer10
ENST00000594335.5:c.2387_2397del
NM_000540.2:c.8935_8945del , LRG_766t1:c.8935_8945del	NP_000531.2:p.Ala2979GlnfsTer10
NM_001042723.1:c.8935_8945del	NP_001036188.1:p.Ala2979GlnfsTer10
XM_006723317.1:c.8935_8945del	XP_006723380.1:p.Ala2979GlnfsTer10
XM_006723319.1:c.8935_8945del	XP_006723382.1:p.Ala2979GlnfsTer10
XM_011527204.1:c.8932_8942del	XP_011525506.1:p.Ala2978GlnfsTer10
XM_011527205.1:c.8935_8945del	XP_011525507.1:p.Ala2979GlnfsTer10
XM_006723317.2:c.8935_8945del	XP_006723380.1:p.Ala2979GlnfsTer10
XM_006723319.2:c.8935_8945del	XP_006723382.1:p.Ala2979GlnfsTer10
XM_011527205.2:c.8935_8945del	XP_011525507.1:p.Ala2979GlnfsTer10
XR_001753735.1:n.9018_9028del
NM_000540.3:c.8935_8945del MANE Select	NP_000531.2:p.Ala2979GlnfsTer10
NM_001042723.2:c.8935_8945del	NP_001036188.1:p.Ala2979GlnfsTer10