Canonical Allele Identifier: CA308123148
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 859750
ClinVar RCV Id: RCV001065934
dbSNP Id: rs111364670

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38510566G>A , CM000681.2:g.38510566G>A GRCh38
NC_000019.9:g.39001206G>A , CM000681.1:g.39001206G>A GRCh37
NC_000019.8:g.43693046G>A NCBI36
NG_008866.1:g.81867G>A , LRG_766:g.81867G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000599547.6:c.9000+1G>A ENSP00000471601.2:n.9000+1G>A
ENST00000359596.8:c.9000+1G>A MANE Select ENSP00000352608.2:n.9000+1G>A
ENST00000355481.8:c.9000+1G>A ENSP00000347667.3:n.9000+1G>A
ENST00000359596.7:c.9000+1G>A ENSP00000352608.2:n.9000+1G>A
ENST00000360985.7:c.8997+1G>A ENSP00000354254.4:n.8997+1G>A
ENST00000594335.5:c.2452+1G>A
NM_000540.2:c.9000+1G>A , LRG_766t1:c.9000+1G>A NP_000531.2:n.9000+1G>A
NM_001042723.1:c.9000+1G>A NP_001036188.1:n.9000+1G>A
XM_006723317.1:c.9000+1G>A XP_006723380.1:n.9000+1G>A
XM_006723319.1:c.9000+1G>A XP_006723382.1:n.9000+1G>A
XM_011527204.1:c.8997+1G>A XP_011525506.1:n.8997+1G>A
XM_011527205.1:c.9000+1G>A XP_011525507.1:n.9000+1G>A
XM_006723317.2:c.9000+1G>A XP_006723380.1:n.9000+1G>A
XM_006723319.2:c.9000+1G>A XP_006723382.1:n.9000+1G>A
XM_011527205.2:c.9000+1G>A XP_011525507.1:n.9000+1G>A
XR_001753735.1:n.9083+1G>A
NM_000540.3:c.9000+1G>A MANE Select NP_000531.2:n.9000+1G>A
NM_001042723.2:c.9000+1G>A NP_001036188.1:n.9000+1G>A