Canonical Allele Identifier: CA2814346152

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565244del , CM000681.2:g.38565244del	GRCh38
NC_000019.9:g.39055884del , CM000681.1:g.39055884del	GRCh37
NC_000019.8:g.43747724del	NCBI36
NG_008866.1:g.136545del , LRG_766:g.136545del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1320del
ENST00000689936.1:c.1302del
ENST00000359596.8:c.12910del MANE Select	ENSP00000352608.2:p.Ala4304ProfsTer?
ENST00000355481.8:c.12895del	ENSP00000347667.3:p.Ala4299ProfsTer?
ENST00000359596.7:c.12910del	ENSP00000352608.2:p.Ala4304ProfsTer?
ENST00000360985.7:c.12892del	ENSP00000354254.4:p.Ala4298ProfsTer?
NM_000540.2:c.12910del , LRG_766t1:c.12910del	NP_000531.2:p.Ala4304ProfsTer?
NM_001042723.1:c.12895del	NP_001036188.1:p.Ala4299ProfsTer?
XM_006723317.1:c.12892del	XP_006723380.1:p.Ala4298ProfsTer?
XM_006723319.1:c.12877del	XP_006723382.1:p.Ala4293ProfsTer?
XM_011527204.1:c.12907del	XP_011525506.1:p.Ala4303ProfsTer?
XM_011527205.1:c.12910del	XP_011525507.1:p.Ala4304ProfsTer?
XM_006723317.2:c.12892del	XP_006723380.1:p.Ala4298ProfsTer?
XM_006723319.2:c.12877del	XP_006723382.1:p.Ala4293ProfsTer?
XM_011527205.2:c.12910del	XP_011525507.1:p.Ala4304ProfsTer?
NM_000540.3:c.12910del MANE Select	NP_000531.2:p.Ala4304ProfsTer?
NM_001042723.2:c.12895del	NP_001036188.1:p.Ala4299ProfsTer?