Canonical Allele Identifier: CA024237

Gene: RYR1

Linked Data

• ClinVar Variation Id: 65948
• ClinVar RCV Id: RCV000056195 ; RCV000119554 ; RCV001382210
• dbSNP Id: rs118192183
• MyVariant Identifiers: chr19:g.39075632G>A (hg19) ; chr19:g.38584992G>A (hg38)
• PubMed: PMID:11709545 ; PMID:20301565

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584992G>A , CM000681.2:g.38584992G>A	GRCh38
NC_000019.9:g.39075632G>A , CM000681.1:g.39075632G>A	GRCh37
NC_000019.8:g.43767472G>A	NCBI36
NG_008866.1:g.156293G>A , LRG_766:g.156293G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1632G>A
ENST00000688602.1:c.3029G>A
ENST00000689936.1:c.3001G>A
ENST00000692547.1:n.89G>A
ENST00000359596.8:c.14696G>A MANE Select	ENSP00000352608.2:p.Gly4899Glu
ENST00000355481.8:c.14681G>A	ENSP00000347667.3:p.Gly4894Glu
ENST00000359596.7:c.14696G>A	ENSP00000352608.2:p.Gly4899Glu
ENST00000360985.7:c.14678G>A	ENSP00000354254.4:p.Gly4893Glu
NM_000540.2:c.14696G>A , LRG_766t1:c.14696G>A	NP_000531.2:p.Gly4899Glu
NM_001042723.1:c.14681G>A	NP_001036188.1:p.Gly4894Glu
XM_006723317.1:c.14678G>A	XP_006723380.1:p.Gly4893Glu
XM_006723319.1:c.14663G>A	XP_006723382.1:p.Gly4888Glu
XM_011527204.1:c.14693G>A	XP_011525506.1:p.Gly4898Glu
XM_011527205.1:c.14609G>A	XP_011525507.1:p.Gly4870Glu
XM_006723317.2:c.14678G>A	XP_006723380.1:p.Gly4893Glu
XM_006723319.2:c.14663G>A	XP_006723382.1:p.Gly4888Glu
XM_011527205.2:c.14609G>A	XP_011525507.1:p.Gly4870Glu
NM_000540.3:c.14696G>A MANE Select	NP_000531.2:p.Gly4899Glu
NM_001042723.2:c.14681G>A	NP_001036188.1:p.Gly4894Glu