Canonical Allele Identifier: CA024165
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133075
dbSNP Id: rs193922879

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