Canonical Allele Identifier: CA024212

Gene: RYR1

Linked Data

• ClinVar Variation Id: 65952
• ClinVar RCV Id: RCV000056199 ; RCV000119542 ; RCV004528261
• dbSNP Id: rs118192147
• gnomAD v2: 19-39075595-C-T
• MyVariant Identifiers: chr19:g.39075595C>T (hg19) ; chr19:g.38584955C>T (hg38)
• PubMed: PMID:17204937 ; PMID:20301565

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584955C>T , CM000681.2:g.38584955C>T	GRCh38
NC_000019.9:g.39075595C>T , CM000681.1:g.39075595C>T	GRCh37
NC_000019.8:g.43767435C>T	NCBI36
NG_008866.1:g.156256C>T , LRG_766:g.156256C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1595C>T
ENST00000688602.1:c.2992C>T
ENST00000689936.1:c.2964C>T
ENST00000692547.1:n.52C>T
ENST00000359596.8:c.14659C>T MANE Select	ENSP00000352608.2:p.His4887Tyr
ENST00000355481.8:c.14644C>T	ENSP00000347667.3:p.His4882Tyr
ENST00000359596.7:c.14659C>T	ENSP00000352608.2:p.His4887Tyr
ENST00000360985.7:c.14641C>T	ENSP00000354254.4:p.His4881Tyr
NM_000540.2:c.14659C>T , LRG_766t1:c.14659C>T	NP_000531.2:p.His4887Tyr
NM_001042723.1:c.14644C>T	NP_001036188.1:p.His4882Tyr
XM_006723317.1:c.14641C>T	XP_006723380.1:p.His4881Tyr
XM_006723319.1:c.14626C>T	XP_006723382.1:p.His4876Tyr
XM_011527204.1:c.14656C>T	XP_011525506.1:p.His4886Tyr
XM_011527205.1:c.14572C>T	XP_011525507.1:p.His4858Tyr
XM_006723317.2:c.14641C>T	XP_006723380.1:p.His4881Tyr
XM_006723319.2:c.14626C>T	XP_006723382.1:p.His4876Tyr
XM_011527205.2:c.14572C>T	XP_011525507.1:p.His4858Tyr
NM_000540.3:c.14659C>T MANE Select	NP_000531.2:p.His4887Tyr
NM_001042723.2:c.14644C>T	NP_001036188.1:p.His4882Tyr