Canonical Allele Identifier: CA658658814

Gene: RYR1

Linked Data

• ClinVar Variation Id: 449523
• ClinVar RCV Id: RCV000520157 ; RCV000804563
• dbSNP Id: rs1555803810
• gnomAD v4: 19-38580037-ACTT-A
• MyVariant Identifiers: chr19:g.39070684_39070686del (hg19) ; chr19:g.38580044_38580046del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580044_38580046del , CM000681.2:g.38580044_38580046del	GRCh38
NC_000019.9:g.39070684_39070686del , CM000681.1:g.39070684_39070686del	GRCh37
NC_000019.8:g.43762524_43762526del	NCBI36
NG_008866.1:g.151345_151347del , LRG_766:g.151345_151347del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1363_1365del
ENST00000688602.1:c.2760_2762del
ENST00000689936.1:c.2732_2734del
ENST00000359596.8:c.14427_14429del MANE Select	ENSP00000352608.2:p.Phe4810del
ENST00000355481.8:c.14412_14414del	ENSP00000347667.3:p.Phe4805del
ENST00000359596.7:c.14427_14429del	ENSP00000352608.2:p.Phe4810del
ENST00000360985.7:c.14409_14411del	ENSP00000354254.4:p.Phe4804del
NM_000540.2:c.14427_14429del , LRG_766t1:c.14427_14429del	NP_000531.2:p.Phe4810del
NM_001042723.1:c.14412_14414del	NP_001036188.1:p.Phe4805del
XM_006723317.1:c.14409_14411del	XP_006723380.1:p.Phe4804del
XM_006723319.1:c.14394_14396del	XP_006723382.1:p.Phe4799del
XM_011527204.1:c.14424_14426del	XP_011525506.1:p.Phe4809del
XM_011527205.1:c.14340_14342del	XP_011525507.1:p.Phe4781del
XM_006723317.2:c.14409_14411del	XP_006723380.1:p.Phe4804del
XM_006723319.2:c.14394_14396del	XP_006723382.1:p.Phe4799del
XM_011527205.2:c.14340_14342del	XP_011525507.1:p.Phe4781del
NM_000540.3:c.14427_14429del MANE Select	NP_000531.2:p.Phe4810del
NM_001042723.2:c.14412_14414del	NP_001036188.1:p.Phe4805del