Canonical Allele Identifier: CA024772

Gene: RYR1

Linked Data

• ClinVar Variation Id: 133201
• ClinVar RCV Id: RCV000119707
• dbSNP Id: rs193922815
• gnomAD v2: 19-38991277-G-A
• gnomAD v4: 19-38500637-G-A
• MyVariant Identifiers: chr19:g.38991277G>A (hg19) ; chr19:g.38500637G>A (hg38)
• ERepo: CA024772/MONDO:0007783/012
• PubMed: PMID:16732084 ; PMID:16917943

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38500637G>A , CM000681.2:g.38500637G>A	GRCh38
NC_000019.9:g.38991277G>A , CM000681.1:g.38991277G>A	GRCh37
NC_000019.8:g.43683117G>A	NCBI36
NG_008866.1:g.71938G>A , LRG_766:g.71938G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.7355G>A	ENSP00000471601.2:p.Arg2452Gln
ENST00000359596.8:c.7355G>A MANE Select	ENSP00000352608.2:p.Arg2452Gln
ENST00000355481.8:c.7355G>A	ENSP00000347667.3:p.Arg2452Gln
ENST00000359596.7:c.7355G>A	ENSP00000352608.2:p.Arg2452Gln
ENST00000360985.7:c.7352G>A	ENSP00000354254.4:p.Arg2451Gln
ENST00000594335.5:c.807G>A
NM_000540.2:c.7355G>A , LRG_766t1:c.7355G>A	NP_000531.2:p.Arg2452Gln
NM_001042723.1:c.7355G>A	NP_001036188.1:p.Arg2452Gln
XM_006723317.1:c.7355G>A	XP_006723380.1:p.Arg2452Gln
XM_006723319.1:c.7355G>A	XP_006723382.1:p.Arg2452Gln
XM_011527204.1:c.7352G>A	XP_011525506.1:p.Arg2451Gln
XM_011527205.1:c.7355G>A	XP_011525507.1:p.Arg2452Gln
XM_006723317.2:c.7355G>A	XP_006723380.1:p.Arg2452Gln
XM_006723319.2:c.7355G>A	XP_006723382.1:p.Arg2452Gln
XM_011527205.2:c.7355G>A	XP_011525507.1:p.Arg2452Gln
XR_001753735.1:n.7438G>A
NM_000540.3:c.7355G>A MANE Select	NP_000531.2:p.Arg2452Gln
NM_001042723.2:c.7355G>A	NP_001036188.1:p.Arg2452Gln