Canonical Allele Identifier: CA023836

Gene: RYR1

Linked Data

• ClinVar Variation Id: 132994
• ClinVar RCV Id: RCV000119410 ; RCV000624604 ; RCV001249074 ; RCV001775081 ; RCV000535801 ; RCV002477304 ; RCV003997313
• dbSNP Id: rs193922837
• ExAC: 19:39013851 C / G
• gnomAD v2: 19-39013851-C-G
• gnomAD v3: 19-38523211-C-G
• gnomAD v4: 19-38523211-C-G
• MyVariant Identifiers: chr19:g.39013851C>G (hg19) ; chr19:g.38523211C>G (hg38)
• PubMed: PMID:4149045 ; PMID:8661021 ; PMID:9199552 ; PMID:16163667 ; PMID:16380615 ; PMID:16917943 ; PMID:18253926 ; PMID:18765655 ; PMID:20583297 ; PMID:20839240 ; PMID:23394784 ; PMID:23553484 ; PMID:23919265

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38523211C>G , CM000681.2:g.38523211C>G	GRCh38
NC_000019.9:g.39013851C>G , CM000681.1:g.39013851C>G	GRCh37
NC_000019.8:g.43705691C>G	NCBI36
NG_008866.1:g.94512C>G , LRG_766:g.94512C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.10287-6C>G	ENSP00000471601.2:n.10287-6C>G
ENST00000359596.8:c.10348-6C>G MANE Select	ENSP00000352608.2:n.10348-6C>G
ENST00000355481.8:c.10348-6C>G	ENSP00000347667.3:n.10348-6C>G
ENST00000359596.7:c.10348-6C>G	ENSP00000352608.2:n.10348-6C>G
ENST00000360985.7:c.10345-6C>G	ENSP00000354254.4:n.10345-6C>G
ENST00000594335.5:c.3750-6C>G
ENST00000599547.5:c.1155-6C>G
ENST00000600337.1:n.50-6C>G
NM_000540.2:c.10348-6C>G , LRG_766t1:c.10348-6C>G	NP_000531.2:n.10348-6C>G
NM_001042723.1:c.10348-6C>G	NP_001036188.1:n.10348-6C>G
XM_006723317.1:c.10348-6C>G	XP_006723380.1:n.10348-6C>G
XM_006723319.1:c.10348-6C>G	XP_006723382.1:n.10348-6C>G
XM_011527204.1:c.10345-6C>G	XP_011525506.1:n.10345-6C>G
XM_011527205.1:c.10348-6C>G	XP_011525507.1:n.10348-6C>G
XM_006723317.2:c.10348-6C>G	XP_006723380.1:n.10348-6C>G
XM_006723319.2:c.10348-6C>G	XP_006723382.1:n.10348-6C>G
XM_011527205.2:c.10348-6C>G	XP_011525507.1:n.10348-6C>G
NM_000540.3:c.10348-6C>G MANE Select	NP_000531.2:n.10348-6C>G
NM_001042723.2:c.10348-6C>G	NP_001036188.1:n.10348-6C>G