Canonical Allele Identifier: CA2335091394
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578150G= , CM000681.2:g.38578150G= GRCh38
NC_000019.9:g.39068790G= , CM000681.1:g.39068790G= GRCh37
NC_000019.8:g.43760630G= NCBI36
NG_008866.1:g.149451G= , LRG_766:g.149451G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1246G=
ENST00000688602.1:c.2643G=
ENST00000689936.1:c.2615G=
ENST00000359596.8:c.14310G= MANE Select ENSP00000352608.2:p.Met4770=
ENST00000355481.8:c.14295G= ENSP00000347667.3:p.Met4765=
ENST00000359596.7:c.14310G= ENSP00000352608.2:p.Met4770=
ENST00000360985.7:c.14292G= ENSP00000354254.4:p.Met4764=
NM_000540.2:c.14310G= , LRG_766t1:c.14310G= NP_000531.2:p.Met4770=
NM_001042723.1:c.14295G= NP_001036188.1:p.Met4765=
XM_006723317.1:c.14292G= XP_006723380.1:p.Met4764=
XM_006723319.1:c.14277G= XP_006723382.1:p.Met4759=
XM_011527204.1:c.14307G= XP_011525506.1:p.Met4769=
XM_011527205.1:c.14223G= XP_011525507.1:p.Met4741=
XM_006723317.2:c.14292G= XP_006723380.1:p.Met4764=
XM_006723319.2:c.14277G= XP_006723382.1:p.Met4759=
XM_011527205.2:c.14223G= XP_011525507.1:p.Met4741=
NM_000540.3:c.14310G= MANE Select NP_000531.2:p.Met4770=
NM_001042723.2:c.14295G= NP_001036188.1:p.Met4765=