Canonical Allele Identifier: CA405684359
Gene: RYR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577958T>C , CM000681.2:g.38577958T>C GRCh38
NC_000019.9:g.39068598T>C , CM000681.1:g.39068598T>C GRCh37
NC_000019.8:g.43760438T>C NCBI36
NG_008866.1:g.149259T>C , LRG_766:g.149259T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1149T>C
ENST00000688602.1:c.2546T>C
ENST00000689936.1:c.2518T>C
ENST00000359596.8:c.14213T>C MANE Select ENSP00000352608.2:p.Ile4738Thr
ENST00000355481.8:c.14198T>C ENSP00000347667.3:p.Ile4733Thr
ENST00000359596.7:c.14213T>C ENSP00000352608.2:p.Ile4738Thr
ENST00000360985.7:c.14195T>C ENSP00000354254.4:p.Ile4732Thr
NM_000540.2:c.14213T>C , LRG_766t1:c.14213T>C NP_000531.2:p.Ile4738Thr
NM_001042723.1:c.14198T>C NP_001036188.1:p.Ile4733Thr
XM_006723317.1:c.14195T>C XP_006723380.1:p.Ile4732Thr
XM_006723319.1:c.14180T>C XP_006723382.1:p.Ile4727Thr
XM_011527204.1:c.14210T>C XP_011525506.1:p.Ile4737Thr
XM_011527205.1:c.14126T>C XP_011525507.1:p.Ile4709Thr
XM_006723317.2:c.14195T>C XP_006723380.1:p.Ile4732Thr
XM_006723319.2:c.14180T>C XP_006723382.1:p.Ile4727Thr
XM_011527205.2:c.14126T>C XP_011525507.1:p.Ile4709Thr
NM_000540.3:c.14213T>C MANE Select NP_000531.2:p.Ile4738Thr
NM_001042723.2:c.14198T>C NP_001036188.1:p.Ile4733Thr