Canonical Allele Identifier: CA2335091339
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578044A= , CM000681.2:g.38578044A= GRCh38
NC_000019.9:g.39068684A= , CM000681.1:g.39068684A= GRCh37
NC_000019.8:g.43760524A= NCBI36
NG_008866.1:g.149345A= , LRG_766:g.149345A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1235A=
ENST00000688602.1:c.2632A=
ENST00000689936.1:c.2604A=
ENST00000359596.8:c.14299A= MANE Select ENSP00000352608.2:p.Thr4767=
ENST00000355481.8:c.14284A= ENSP00000347667.3:p.Thr4762=
ENST00000359596.7:c.14299A= ENSP00000352608.2:p.Thr4767=
ENST00000360985.7:c.14281A= ENSP00000354254.4:p.Thr4761=
NM_000540.2:c.14299A= , LRG_766t1:c.14299A= NP_000531.2:p.Thr4767=
NM_001042723.1:c.14284A= NP_001036188.1:p.Thr4762=
XM_006723317.1:c.14281A= XP_006723380.1:p.Thr4761=
XM_006723319.1:c.14266A= XP_006723382.1:p.Thr4756=
XM_011527204.1:c.14296A= XP_011525506.1:p.Thr4766=
XM_011527205.1:c.14212A= XP_011525507.1:p.Thr4738=
XM_006723317.2:c.14281A= XP_006723380.1:p.Thr4761=
XM_006723319.2:c.14266A= XP_006723382.1:p.Thr4756=
XM_011527205.2:c.14212A= XP_011525507.1:p.Thr4738=
NM_000540.3:c.14299A= MANE Select NP_000531.2:p.Thr4767=
NM_001042723.2:c.14284A= NP_001036188.1:p.Thr4762=
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