Canonical Allele Identifier: CA024847

Gene: RYR1

Linked Data

• ClinVar Variation Id: 93291
• ClinVar RCV Id: RCV000079169 ; RCV001802768 ; RCV003997201 ; RCV002514390
• dbSNP Id: rs193922822
• gnomAD v2: 19-38993303-C-G
• gnomAD v3: 19-38502663-C-G
• gnomAD v4: 19-38502663-C-G
• MyVariant Identifiers: chr19:g.38993303C>G (hg19) ; chr19:g.38502663C>G (hg38)
• ERepo: CA024847/MONDO:0018493/012
• PubMed: PMID:16835904 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502663C>G , CM000681.2:g.38502663C>G	GRCh38
NC_000019.9:g.38993303C>G , CM000681.1:g.38993303C>G	GRCh37
NC_000019.8:g.43685143C>G	NCBI36
NG_008866.1:g.73964C>G , LRG_766:g.73964C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7771C>G	ENSP00000471601.2:p.Arg2591Gly
ENST00000359596.8:c.7771C>G MANE Select	ENSP00000352608.2:p.Arg2591Gly
ENST00000355481.8:c.7771C>G	ENSP00000347667.3:p.Arg2591Gly
ENST00000359596.7:c.7771C>G	ENSP00000352608.2:p.Arg2591Gly
ENST00000360985.7:c.7768C>G	ENSP00000354254.4:p.Arg2590Gly
ENST00000594335.5:c.1223C>G
NM_000540.2:c.7771C>G , LRG_766t1:c.7771C>G	NP_000531.2:p.Arg2591Gly
NM_001042723.1:c.7771C>G	NP_001036188.1:p.Arg2591Gly
XM_006723317.1:c.7771C>G	XP_006723380.1:p.Arg2591Gly
XM_006723319.1:c.7771C>G	XP_006723382.1:p.Arg2591Gly
XM_011527204.1:c.7768C>G	XP_011525506.1:p.Arg2590Gly
XM_011527205.1:c.7771C>G	XP_011525507.1:p.Arg2591Gly
XM_006723317.2:c.7771C>G	XP_006723380.1:p.Arg2591Gly
XM_006723319.2:c.7771C>G	XP_006723382.1:p.Arg2591Gly
XM_011527205.2:c.7771C>G	XP_011525507.1:p.Arg2591Gly
XR_001753735.1:n.7854C>G
NM_000540.3:c.7771C>G MANE Select	NP_000531.2:p.Arg2591Gly
NM_001042723.2:c.7771C>G	NP_001036188.1:p.Arg2591Gly