Canonical Allele Identifier: CA061015
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 544520
dbSNP Id: rs138156449

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578002G>A , CM000681.2:g.38578002G>A GRCh38
NC_000019.9:g.39068642G>A , CM000681.1:g.39068642G>A GRCh37
NC_000019.8:g.43760482G>A NCBI36
NG_008866.1:g.149303G>A , LRG_766:g.149303G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1193G>A
ENST00000688602.1:c.2590G>A
ENST00000689936.1:c.2562G>A
ENST00000359596.8:c.14257G>A MANE Select ENSP00000352608.2:p.Ala4753Thr
ENST00000355481.8:c.14242G>A ENSP00000347667.3:p.Ala4748Thr
ENST00000359596.7:c.14257G>A ENSP00000352608.2:p.Ala4753Thr
ENST00000360985.7:c.14239G>A ENSP00000354254.4:p.Ala4747Thr
NM_000540.2:c.14257G>A , LRG_766t1:c.14257G>A NP_000531.2:p.Ala4753Thr
NM_001042723.1:c.14242G>A NP_001036188.1:p.Ala4748Thr
XM_006723317.1:c.14239G>A XP_006723380.1:p.Ala4747Thr
XM_006723319.1:c.14224G>A XP_006723382.1:p.Ala4742Thr
XM_011527204.1:c.14254G>A XP_011525506.1:p.Ala4752Thr
XM_011527205.1:c.14170G>A XP_011525507.1:p.Ala4724Thr
XM_006723317.2:c.14239G>A XP_006723380.1:p.Ala4747Thr
XM_006723319.2:c.14224G>A XP_006723382.1:p.Ala4742Thr
XM_011527205.2:c.14170G>A XP_011525507.1:p.Ala4724Thr
NM_000540.3:c.14257G>A MANE Select NP_000531.2:p.Ala4753Thr
NM_001042723.2:c.14242G>A NP_001036188.1:p.Ala4748Thr