Canonical Allele Identifier: CA024165

Gene: RYR1

Linked Data

• ClinVar Variation Id: 133075
• ClinVar RCV Id: RCV000119524 ; RCV000148830 ; RCV000616859 ; RCV001132276 ; RCV002247501 ; RCV001588937 ; RCV002498549 ; RCV000546614
• dbSNP Id: rs193922879
• ExAC: 19:39071022 G / A
• gnomAD v2: 19-39071022-G-A
• gnomAD v3: 19-38580382-G-A
• gnomAD v4: 19-38580382-G-A
• MyVariant Identifiers: chr19:g.39071022G>A (hg19) ; chr19:g.38580382G>A (hg38)
• ERepo: CA024165/MONDO:0018493/012
• PubMed: PMID:18253926 ; PMID:20839240 ; PMID:21062345 ; PMID:21455645 ; PMID:23553787 ; PMID:24195946 ; PMID:24627108 ; PMID:25637381

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580382G>A , CM000681.2:g.38580382G>A	GRCh38
NC_000019.9:g.39071022G>A , CM000681.1:g.39071022G>A	GRCh37
NC_000019.8:g.43762862G>A	NCBI36
NG_008866.1:g.151683G>A , LRG_766:g.151683G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1460G>A
ENST00000688602.1:c.2857G>A
ENST00000689936.1:c.2829G>A
ENST00000359596.8:c.14524G>A MANE Select	ENSP00000352608.2:p.Val4842Met
ENST00000355481.8:c.14509G>A	ENSP00000347667.3:p.Val4837Met
ENST00000359596.7:c.14524G>A	ENSP00000352608.2:p.Val4842Met
ENST00000360985.7:c.14506G>A	ENSP00000354254.4:p.Val4836Met
NM_000540.2:c.14524G>A , LRG_766t1:c.14524G>A	NP_000531.2:p.Val4842Met
NM_001042723.1:c.14509G>A	NP_001036188.1:p.Val4837Met
XM_006723317.1:c.14506G>A	XP_006723380.1:p.Val4836Met
XM_006723319.1:c.14491G>A	XP_006723382.1:p.Val4831Met
XM_011527204.1:c.14521G>A	XP_011525506.1:p.Val4841Met
XM_011527205.1:c.14437G>A	XP_011525507.1:p.Val4813Met
XM_006723317.2:c.14506G>A	XP_006723380.1:p.Val4836Met
XM_006723319.2:c.14491G>A	XP_006723382.1:p.Val4831Met
XM_011527205.2:c.14437G>A	XP_011525507.1:p.Val4813Met
NM_000540.3:c.14524G>A MANE Select	NP_000531.2:p.Val4842Met
NM_001042723.2:c.14509G>A	NP_001036188.1:p.Val4837Met