Canonical Allele Identifier: CA405684796
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.39068670C>A (hg19) chr19:g.38578030C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578030C>A , CM000681.2:g.38578030C>A GRCh38
NC_000019.9:g.39068670C>A , CM000681.1:g.39068670C>A GRCh37
NC_000019.8:g.43760510C>A NCBI36
NG_008866.1:g.149331C>A , LRG_766:g.149331C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1221C>A
ENST00000688602.1:c.2618C>A
ENST00000689936.1:c.2590C>A
ENST00000359596.8:c.14285C>A MANE Select ENSP00000352608.2:p.Pro4762Gln
ENST00000355481.8:c.14270C>A ENSP00000347667.3:p.Pro4757Gln
ENST00000359596.7:c.14285C>A ENSP00000352608.2:p.Pro4762Gln
ENST00000360985.7:c.14267C>A ENSP00000354254.4:p.Pro4756Gln
NM_000540.2:c.14285C>A , LRG_766t1:c.14285C>A NP_000531.2:p.Pro4762Gln
NM_001042723.1:c.14270C>A NP_001036188.1:p.Pro4757Gln
XM_006723317.1:c.14267C>A XP_006723380.1:p.Pro4756Gln
XM_006723319.1:c.14252C>A XP_006723382.1:p.Pro4751Gln
XM_011527204.1:c.14282C>A XP_011525506.1:p.Pro4761Gln
XM_011527205.1:c.14198C>A XP_011525507.1:p.Pro4733Gln
XM_006723317.2:c.14267C>A XP_006723380.1:p.Pro4756Gln
XM_006723319.2:c.14252C>A XP_006723382.1:p.Pro4751Gln
XM_011527205.2:c.14198C>A XP_011525507.1:p.Pro4733Gln
NM_000540.3:c.14285C>A MANE Select NP_000531.2:p.Pro4762Gln
NM_001042723.2:c.14270C>A NP_001036188.1:p.Pro4757Gln
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