Canonical Allele Identifier: CA024104
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65996
dbSNP Id: rs118192140

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38573304C>T , CM000681.2:g.38573304C>T GRCh38
NC_000019.9:g.39063944C>T , CM000681.1:g.39063944C>T GRCh37
NC_000019.8:g.43755784C>T NCBI36
NG_008866.1:g.144605C>T , LRG_766:g.144605C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000593677.2:c.1062C>T
ENST00000688602.1:c.2459C>T
ENST00000689936.1:c.2431C>T
ENST00000359596.8:c.14126C>T MANE Select ENSP00000352608.2:p.Thr4709Met
ENST00000355481.8:c.14111C>T ENSP00000347667.3:p.Thr4704Met
ENST00000359596.7:c.14126C>T ENSP00000352608.2:p.Thr4709Met
ENST00000360985.7:c.14108C>T ENSP00000354254.4:p.Thr4703Met
NM_000540.2:c.14126C>T , LRG_766t1:c.14126C>T NP_000531.2:p.Thr4709Met
NM_001042723.1:c.14111C>T NP_001036188.1:p.Thr4704Met
XM_006723317.1:c.14108C>T XP_006723380.1:p.Thr4703Met
XM_006723319.1:c.14093C>T XP_006723382.1:p.Thr4698Met
XM_011527204.1:c.14123C>T XP_011525506.1:p.Thr4708Met
XM_011527205.1:c.14039C>T XP_011525507.1:p.Thr4680Met
XM_006723317.2:c.14108C>T XP_006723380.1:p.Thr4703Met
XM_006723319.2:c.14093C>T XP_006723382.1:p.Thr4698Met
XM_011527205.2:c.14039C>T XP_011525507.1:p.Thr4680Met
NM_000540.3:c.14126C>T MANE Select NP_000531.2:p.Thr4709Met
NM_001042723.2:c.14111C>T NP_001036188.1:p.Thr4704Met