Canonical Allele Identifier: CA308109525
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 544420
dbSNP Id: rs1051206491

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38565541G>A , CM000681.2:g.38565541G>A GRCh38
NC_000019.9:g.39056181G>A , CM000681.1:g.39056181G>A GRCh37
NC_000019.8:g.43748021G>A NCBI36
NG_008866.1:g.136842G>A , LRG_766:g.136842G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.143G>A
ENST00000688602.1:c.1617G>A
ENST00000689936.1:c.1599G>A
ENST00000359596.8:c.13207G>A MANE Select ENSP00000352608.2:p.Ala4403Thr
ENST00000355481.8:c.13192G>A ENSP00000347667.3:p.Ala4398Thr
ENST00000359596.7:c.13207G>A ENSP00000352608.2:p.Ala4403Thr
ENST00000360985.7:c.13189G>A ENSP00000354254.4:p.Ala4397Thr
NM_000540.2:c.13207G>A , LRG_766t1:c.13207G>A NP_000531.2:p.Ala4403Thr
NM_001042723.1:c.13192G>A NP_001036188.1:p.Ala4398Thr
XM_006723317.1:c.13189G>A XP_006723380.1:p.Ala4397Thr
XM_006723319.1:c.13174G>A XP_006723382.1:p.Ala4392Thr
XM_011527204.1:c.13204G>A XP_011525506.1:p.Ala4402Thr
XM_011527205.1:c.13207G>A XP_011525507.1:p.Ala4403Thr
XM_006723317.2:c.13189G>A XP_006723380.1:p.Ala4397Thr
XM_006723319.2:c.13174G>A XP_006723382.1:p.Ala4392Thr
XM_011527205.2:c.13207G>A XP_011525507.1:p.Ala4403Thr
NM_000540.3:c.13207G>A MANE Select NP_000531.2:p.Ala4403Thr
NM_001042723.2:c.13192G>A NP_001036188.1:p.Ala4398Thr