Canonical Allele Identifier: CA059891

Gene: RYR1

Linked Data

• ClinVar Variation Id: 478185
• ClinVar RCV Id: RCV000551114 ; RCV000764199 ; RCV000623122 ; RCV001797108
• dbSNP Id: rs149455643
• ExAC: 19:39057590 C / G
• gnomAD v2: 19-39057590-C-G
• gnomAD v3: 19-38566950-C-G
• gnomAD v4: 19-38566950-C-G
• MyVariant Identifiers: chr19:g.39057590C>G (hg19) ; chr19:g.38566950C>G (hg38)
• PubMed: PMID:4149045 ; PMID:8661021 ; PMID:9199552 ; PMID:16163667 ; PMID:16380615 ; PMID:16917943 ; PMID:18765655 ; PMID:20583297 ; PMID:20839240 ; PMID:23394784 ; PMID:23553484 ; PMID:23919265

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38566950C>G , CM000681.2:g.38566950C>G	GRCh38
NC_000019.9:g.39057590C>G , CM000681.1:g.39057590C>G	GRCh37
NC_000019.8:g.43749430C>G	NCBI36
NG_008866.1:g.138251C>G , LRG_766:g.138251C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.413C>G
ENST00000688602.1:c.1848-823C>G
ENST00000689936.1:c.1869C>G
ENST00000359596.8:c.13477C>G MANE Select	ENSP00000352608.2:p.Pro4493Ala
ENST00000355481.8:c.13462C>G	ENSP00000347667.3:p.Pro4488Ala
ENST00000359596.7:c.13477C>G	ENSP00000352608.2:p.Pro4493Ala
ENST00000360985.7:c.13459C>G	ENSP00000354254.4:p.Pro4487Ala
ENST00000593677.1:c.24C>G
NM_000540.2:c.13477C>G , LRG_766t1:c.13477C>G	NP_000531.2:p.Pro4493Ala
NM_001042723.1:c.13462C>G	NP_001036188.1:p.Pro4488Ala
XM_006723317.1:c.13459C>G	XP_006723380.1:p.Pro4487Ala
XM_006723319.1:c.13444C>G	XP_006723382.1:p.Pro4482Ala
XM_011527204.1:c.13474C>G	XP_011525506.1:p.Pro4492Ala
XM_011527205.1:c.13477C>G	XP_011525507.1:p.Pro4493Ala
XM_006723317.2:c.13459C>G	XP_006723380.1:p.Pro4487Ala
XM_006723319.2:c.13444C>G	XP_006723382.1:p.Pro4482Ala
XM_011527205.2:c.13477C>G	XP_011525507.1:p.Pro4493Ala
NM_000540.3:c.13477C>G MANE Select	NP_000531.2:p.Pro4493Ala
NM_001042723.2:c.13462C>G	NP_001036188.1:p.Pro4488Ala