Canonical Allele Identifier: CA024225
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133087
dbSNP Id: rs193922888

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38584976G>A , CM000681.2:g.38584976G>A GRCh38
NC_000019.9:g.39075616G>A , CM000681.1:g.39075616G>A GRCh37
NC_000019.8:g.43767456G>A NCBI36
NG_008866.1:g.156277G>A , LRG_766:g.156277G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1616G>A
ENST00000688602.1:c.3013G>A
ENST00000689936.1:c.2985G>A
ENST00000692547.1:n.73G>A
ENST00000359596.8:c.14680G>A MANE Select ENSP00000352608.2:p.Ala4894Thr
ENST00000355481.8:c.14665G>A ENSP00000347667.3:p.Ala4889Thr
ENST00000359596.7:c.14680G>A ENSP00000352608.2:p.Ala4894Thr
ENST00000360985.7:c.14662G>A ENSP00000354254.4:p.Ala4888Thr
NM_000540.2:c.14680G>A , LRG_766t1:c.14680G>A NP_000531.2:p.Ala4894Thr
NM_001042723.1:c.14665G>A NP_001036188.1:p.Ala4889Thr
XM_006723317.1:c.14662G>A XP_006723380.1:p.Ala4888Thr
XM_006723319.1:c.14647G>A XP_006723382.1:p.Ala4883Thr
XM_011527204.1:c.14677G>A XP_011525506.1:p.Ala4893Thr
XM_011527205.1:c.14593G>A XP_011525507.1:p.Ala4865Thr
XM_006723317.2:c.14662G>A XP_006723380.1:p.Ala4888Thr
XM_006723319.2:c.14647G>A XP_006723382.1:p.Ala4883Thr
XM_011527205.2:c.14593G>A XP_011525507.1:p.Ala4865Thr
NM_000540.3:c.14680G>A MANE Select NP_000531.2:p.Ala4894Thr
NM_001042723.2:c.14665G>A NP_001036188.1:p.Ala4889Thr