Canonical Allele Identifier: CA024112
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133059
dbSNP Id: rs193922866

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577946G>A , CM000681.2:g.38577946G>A GRCh38
NC_000019.9:g.39068586G>A , CM000681.1:g.39068586G>A GRCh37
NC_000019.8:g.43760426G>A NCBI36
NG_008866.1:g.149247G>A , LRG_766:g.149247G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1137G>A
ENST00000688602.1:c.2534G>A
ENST00000689936.1:c.2506G>A
ENST00000359596.8:c.14201G>A MANE Select ENSP00000352608.2:p.Gly4734Glu
ENST00000355481.8:c.14186G>A ENSP00000347667.3:p.Gly4729Glu
ENST00000359596.7:c.14201G>A ENSP00000352608.2:p.Gly4734Glu
ENST00000360985.7:c.14183G>A ENSP00000354254.4:p.Gly4728Glu
NM_000540.2:c.14201G>A , LRG_766t1:c.14201G>A NP_000531.2:p.Gly4734Glu
NM_001042723.1:c.14186G>A NP_001036188.1:p.Gly4729Glu
XM_006723317.1:c.14183G>A XP_006723380.1:p.Gly4728Glu
XM_006723319.1:c.14168G>A XP_006723382.1:p.Gly4723Glu
XM_011527204.1:c.14198G>A XP_011525506.1:p.Gly4733Glu
XM_011527205.1:c.14114G>A XP_011525507.1:p.Gly4705Glu
XM_006723317.2:c.14183G>A XP_006723380.1:p.Gly4728Glu
XM_006723319.2:c.14168G>A XP_006723382.1:p.Gly4723Glu
XM_011527205.2:c.14114G>A XP_011525507.1:p.Gly4705Glu
NM_000540.3:c.14201G>A MANE Select NP_000531.2:p.Gly4734Glu
NM_001042723.2:c.14186G>A NP_001036188.1:p.Gly4729Glu