Canonical Allele Identifier: CA023827

Gene: RYR1

Linked Data

• ClinVar Variation Id: 12969
• ClinVar RCV Id: RCV000013836 ; RCV000119406 ; RCV000655541
• dbSNP Id: rs121918592
• gnomAD v4: 19-38448712-G-A
• MyVariant Identifiers: chr19:g.38939352G>A (hg19) ; chr19:g.38448712G>A (hg38)
• ERepo: CA023827/MONDO:0007783/012
• PubMed: PMID:7554356 ; PMID:8012359 ; PMID:9106529 ; PMID:9520251 ; PMID:9543323 ; PMID:9831351 ; PMID:16917943 ; PMID:17710899

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38448712G>A , CM000681.2:g.38448712G>A	GRCh38
NC_000019.9:g.38939352G>A , CM000681.1:g.38939352G>A	GRCh37
NC_000019.8:g.43631192G>A	NCBI36
NG_008866.1:g.20013G>A , LRG_766:g.20013G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.1021G>A	ENSP00000471601.2:p.Gly341Arg
ENST00000359596.8:c.1021G>A MANE Select	ENSP00000352608.2:p.Gly341Arg
ENST00000355481.8:c.1021G>A	ENSP00000347667.3:p.Gly341Arg
ENST00000359596.7:c.1021G>A	ENSP00000352608.2:p.Gly341Arg
ENST00000360985.7:c.1021G>A	ENSP00000354254.4:p.Gly341Arg
NM_000540.2:c.1021G>A , LRG_766t1:c.1021G>A	NP_000531.2:p.Gly341Arg
NM_001042723.1:c.1021G>A	NP_001036188.1:p.Gly341Arg
XM_006723317.1:c.1021G>A	XP_006723380.1:p.Gly341Arg
XM_006723319.1:c.1021G>A	XP_006723382.1:p.Gly341Arg
XM_011527204.1:c.1018G>A	XP_011525506.1:p.Gly340Arg
XM_011527205.1:c.1021G>A	XP_011525507.1:p.Gly341Arg
XM_006723317.2:c.1021G>A	XP_006723380.1:p.Gly341Arg
XM_006723319.2:c.1021G>A	XP_006723382.1:p.Gly341Arg
XM_011527205.2:c.1021G>A	XP_011525507.1:p.Gly341Arg
XR_001753735.1:n.1104G>A
NM_000540.3:c.1021G>A MANE Select	NP_000531.2:p.Gly341Arg
NM_001042723.2:c.1021G>A	NP_001036188.1:p.Gly341Arg