Canonical Allele Identifier: CA405684440
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.39068610T>A (hg19) chr19:g.38577970T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577970T>A , CM000681.2:g.38577970T>A GRCh38
NC_000019.9:g.39068610T>A , CM000681.1:g.39068610T>A GRCh37
NC_000019.8:g.43760450T>A NCBI36
NG_008866.1:g.149271T>A , LRG_766:g.149271T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1161T>A
ENST00000688602.1:c.2558T>A
ENST00000689936.1:c.2530T>A
ENST00000359596.8:c.14225T>A MANE Select ENSP00000352608.2:p.Leu4742Gln
ENST00000355481.8:c.14210T>A ENSP00000347667.3:p.Leu4737Gln
ENST00000359596.7:c.14225T>A ENSP00000352608.2:p.Leu4742Gln
ENST00000360985.7:c.14207T>A ENSP00000354254.4:p.Leu4736Gln
NM_000540.2:c.14225T>A , LRG_766t1:c.14225T>A NP_000531.2:p.Leu4742Gln
NM_001042723.1:c.14210T>A NP_001036188.1:p.Leu4737Gln
XM_006723317.1:c.14207T>A XP_006723380.1:p.Leu4736Gln
XM_006723319.1:c.14192T>A XP_006723382.1:p.Leu4731Gln
XM_011527204.1:c.14222T>A XP_011525506.1:p.Leu4741Gln
XM_011527205.1:c.14138T>A XP_011525507.1:p.Leu4713Gln
XM_006723317.2:c.14207T>A XP_006723380.1:p.Leu4736Gln
XM_006723319.2:c.14192T>A XP_006723382.1:p.Leu4731Gln
XM_011527205.2:c.14138T>A XP_011525507.1:p.Leu4713Gln
NM_000540.3:c.14225T>A MANE Select NP_000531.2:p.Leu4742Gln
NM_001042723.2:c.14210T>A NP_001036188.1:p.Leu4737Gln
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