Canonical Allele Identifier: CA2335091390
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578144G= , CM000681.2:g.38578144G= GRCh38
NC_000019.9:g.39068784G= , CM000681.1:g.39068784G= GRCh37
NC_000019.8:g.43760624G= NCBI36
NG_008866.1:g.149445G= , LRG_766:g.149445G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1240G=
ENST00000688602.1:c.2637G=
ENST00000689936.1:c.2609G=
ENST00000359596.8:c.14304G= MANE Select ENSP00000352608.2:p.Trp4768=
ENST00000355481.8:c.14289G= ENSP00000347667.3:p.Trp4763=
ENST00000359596.7:c.14304G= ENSP00000352608.2:p.Trp4768=
ENST00000360985.7:c.14286G= ENSP00000354254.4:p.Trp4762=
NM_000540.2:c.14304G= , LRG_766t1:c.14304G= NP_000531.2:p.Trp4768=
NM_001042723.1:c.14289G= NP_001036188.1:p.Trp4763=
XM_006723317.1:c.14286G= XP_006723380.1:p.Trp4762=
XM_006723319.1:c.14271G= XP_006723382.1:p.Trp4757=
XM_011527204.1:c.14301G= XP_011525506.1:p.Trp4767=
XM_011527205.1:c.14217G= XP_011525507.1:p.Trp4739=
XM_006723317.2:c.14286G= XP_006723380.1:p.Trp4762=
XM_006723319.2:c.14271G= XP_006723382.1:p.Trp4757=
XM_011527205.2:c.14217G= XP_011525507.1:p.Trp4739=
NM_000540.3:c.14304G= MANE Select NP_000531.2:p.Trp4768=
NM_001042723.2:c.14289G= NP_001036188.1:p.Trp4763=
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