Canonical Allele Identifier: CA024202
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133082
dbSNP Id: rs193922883

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38580497T>C , CM000681.2:g.38580497T>C GRCh38
NC_000019.9:g.39071137T>C , CM000681.1:g.39071137T>C GRCh37
NC_000019.8:g.43762977T>C NCBI36
NG_008866.1:g.151798T>C , LRG_766:g.151798T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1575T>C
ENST00000688602.1:c.2972T>C
ENST00000689936.1:c.2944T>C
ENST00000359596.8:c.14639T>C MANE Select ENSP00000352608.2:p.Met4880Thr
ENST00000355481.8:c.14624T>C ENSP00000347667.3:p.Met4875Thr
ENST00000359596.7:c.14639T>C ENSP00000352608.2:p.Met4880Thr
ENST00000360985.7:c.14621T>C ENSP00000354254.4:p.Met4874Thr
NM_000540.2:c.14639T>C , LRG_766t1:c.14639T>C NP_000531.2:p.Met4880Thr
NM_001042723.1:c.14624T>C NP_001036188.1:p.Met4875Thr
XM_006723317.1:c.14621T>C XP_006723380.1:p.Met4874Thr
XM_006723319.1:c.14606T>C XP_006723382.1:p.Met4869Thr
XM_011527204.1:c.14636T>C XP_011525506.1:p.Met4879Thr
XM_011527205.1:c.14552T>C XP_011525507.1:p.Met4851Thr
XM_006723317.2:c.14621T>C XP_006723380.1:p.Met4874Thr
XM_006723319.2:c.14606T>C XP_006723382.1:p.Met4869Thr
XM_011527205.2:c.14552T>C XP_011525507.1:p.Met4851Thr
NM_000540.3:c.14639T>C MANE Select NP_000531.2:p.Met4880Thr
NM_001042723.2:c.14624T>C NP_001036188.1:p.Met4875Thr