Canonical Allele Identifier: CA2335091329
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578029C= , CM000681.2:g.38578029C= GRCh38
NC_000019.9:g.39068669C= , CM000681.1:g.39068669C= GRCh37
NC_000019.8:g.43760509C= NCBI36
NG_008866.1:g.149330C= , LRG_766:g.149330C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1220C=
ENST00000688602.1:c.2617C=
ENST00000689936.1:c.2589C=
ENST00000359596.8:c.14284C= MANE Select ENSP00000352608.2:p.Pro4762=
ENST00000355481.8:c.14269C= ENSP00000347667.3:p.Pro4757=
ENST00000359596.7:c.14284C= ENSP00000352608.2:p.Pro4762=
ENST00000360985.7:c.14266C= ENSP00000354254.4:p.Pro4756=
NM_000540.2:c.14284C= , LRG_766t1:c.14284C= NP_000531.2:p.Pro4762=
NM_001042723.1:c.14269C= NP_001036188.1:p.Pro4757=
XM_006723317.1:c.14266C= XP_006723380.1:p.Pro4756=
XM_006723319.1:c.14251C= XP_006723382.1:p.Pro4751=
XM_011527204.1:c.14281C= XP_011525506.1:p.Pro4761=
XM_011527205.1:c.14197C= XP_011525507.1:p.Pro4733=
XM_006723317.2:c.14266C= XP_006723380.1:p.Pro4756=
XM_006723319.2:c.14251C= XP_006723382.1:p.Pro4751=
XM_011527205.2:c.14197C= XP_011525507.1:p.Pro4733=
NM_000540.3:c.14284C= MANE Select NP_000531.2:p.Pro4762=
NM_001042723.2:c.14269C= NP_001036188.1:p.Pro4757=
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