Canonical Allele Identifier: CA080815

Gene: RYR1

Linked Data

• ClinVar Variation Id: 478181
• ClinVar RCV Id: RCV000543541 ; RCV001509033 ; RCV003387883
• dbSNP Id: rs763413580
• ExAC: 19:39056201 CGAGGGCGCTGGAGACGCCGCG / C
• gnomAD v2: 19-39056201-CGAGGGCGCTGGAGACGCCGCG-C
• gnomAD v3: 19-38565561-CGAGGGCGCTGGAGACGCCGCG-C
• gnomAD v4: 19-38565561-CGAGGGCGCTGGAGACGCCGCG-C
• COSMIC: COSM5347530
• MyVariant Identifiers: chr19:g.39056218_39056238del (hg19) ; chr19:g.39056202_39056222del (hg19) ; chr19:g.38565578_38565598del (hg38) ; chr19:g.38565562_38565582del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565578_38565598del , CM000681.2:g.38565578_38565598del	GRCh38
NC_000019.9:g.39056218_39056238del , CM000681.1:g.39056218_39056238del	GRCh37
NC_000019.8:g.43748058_43748078del	NCBI36
NG_008866.1:g.136879_136899del , LRG_766:g.136879_136899del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.180_200del
ENST00000688602.1:c.1654_1674del
ENST00000689936.1:c.1636_1656del
ENST00000359596.8:c.13244_13264del MANE Select	ENSP00000352608.2:p.Ala4415_Asp4421del
ENST00000355481.8:c.13229_13249del	ENSP00000347667.3:p.Ala4410_Asp4416del
ENST00000359596.7:c.13244_13264del	ENSP00000352608.2:p.Ala4415_Asp4421del
ENST00000360985.7:c.13226_13246del	ENSP00000354254.4:p.Ala4409_Asp4415del
NM_000540.2:c.13244_13264del , LRG_766t1:c.13244_13264del	NP_000531.2:p.Ala4415_Asp4421del
NM_001042723.1:c.13229_13249del	NP_001036188.1:p.Ala4410_Asp4416del
XM_006723317.1:c.13226_13246del	XP_006723380.1:p.Ala4409_Asp4415del
XM_006723319.1:c.13211_13231del	XP_006723382.1:p.Ala4404_Asp4410del
XM_011527204.1:c.13241_13261del	XP_011525506.1:p.Ala4414_Asp4420del
XM_011527205.1:c.13244_13264del	XP_011525507.1:p.Ala4415_Asp4421del
XM_006723317.2:c.13226_13246del	XP_006723380.1:p.Ala4409_Asp4415del
XM_006723319.2:c.13211_13231del	XP_006723382.1:p.Ala4404_Asp4410del
XM_011527205.2:c.13244_13264del	XP_011525507.1:p.Ala4415_Asp4421del
NM_000540.3:c.13244_13264del MANE Select	NP_000531.2:p.Ala4415_Asp4421del
NM_001042723.2:c.13229_13249del	NP_001036188.1:p.Ala4410_Asp4416del