Canonical Allele Identifier: CA023997

Gene: RYR1

Linked Data

• ClinVar Variation Id: 12981
• ClinVar RCV Id: RCV000013851 ; RCV000119463
• dbSNP Id: rs118192165
• MyVariant Identifiers: chr19:g.39055614_39055622del (hg19) ; chr19:g.38564974_38564982del (hg38)
• PubMed: PMID:11709545 ; PMID:16958053 ; PMID:20301565

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38564974_38564982del , CM000681.2:g.38564974_38564982del	GRCh38
NC_000019.9:g.39055614_39055622del , CM000681.1:g.39055614_39055622del	GRCh37
NC_000019.8:g.43747454_43747462del	NCBI36
NG_008866.1:g.136275_136283del , LRG_766:g.136275_136283del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1050_1058del
ENST00000689936.1:c.1032_1040del
ENST00000359596.8:c.12640_12648del MANE Select	ENSP00000352608.2:p.Arg4214_Phe4216del
ENST00000355481.8:c.12625_12633del	ENSP00000347667.3:p.Arg4209_Phe4211del
ENST00000359596.7:c.12640_12648del	ENSP00000352608.2:p.Arg4214_Phe4216del
ENST00000360985.7:c.12622_12630del	ENSP00000354254.4:p.Arg4208_Phe4210del
ENST00000594335.5:c.6009_6017del
NM_000540.2:c.12640_12648del , LRG_766t1:c.12640_12648del	NP_000531.2:p.Arg4214_Phe4216del
NM_001042723.1:c.12625_12633del	NP_001036188.1:p.Arg4209_Phe4211del
XM_006723317.1:c.12622_12630del	XP_006723380.1:p.Arg4208_Phe4210del
XM_006723319.1:c.12607_12615del	XP_006723382.1:p.Arg4203_Phe4205del
XM_011527204.1:c.12637_12645del	XP_011525506.1:p.Arg4213_Phe4215del
XM_011527205.1:c.12640_12648del	XP_011525507.1:p.Arg4214_Phe4216del
XM_006723317.2:c.12622_12630del	XP_006723380.1:p.Arg4208_Phe4210del
XM_006723319.2:c.12607_12615del	XP_006723382.1:p.Arg4203_Phe4205del
XM_011527205.2:c.12640_12648del	XP_011525507.1:p.Arg4214_Phe4216del
NM_000540.3:c.12640_12648del MANE Select	NP_000531.2:p.Arg4214_Phe4216del
NM_001042723.2:c.12625_12633del	NP_001036188.1:p.Arg4209_Phe4211del