Canonical Allele Identifier: CA405684688
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.39068647C>G (hg19) chr19:g.38578007C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578007C>G , CM000681.2:g.38578007C>G GRCh38
NC_000019.9:g.39068647C>G , CM000681.1:g.39068647C>G GRCh37
NC_000019.8:g.43760487C>G NCBI36
NG_008866.1:g.149308C>G , LRG_766:g.149308C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1198C>G
ENST00000688602.1:c.2595C>G
ENST00000689936.1:c.2567C>G
ENST00000359596.8:c.14262C>G MANE Select ENSP00000352608.2:p.His4754Gln
ENST00000355481.8:c.14247C>G ENSP00000347667.3:p.His4749Gln
ENST00000359596.7:c.14262C>G ENSP00000352608.2:p.His4754Gln
ENST00000360985.7:c.14244C>G ENSP00000354254.4:p.His4748Gln
NM_000540.2:c.14262C>G , LRG_766t1:c.14262C>G NP_000531.2:p.His4754Gln
NM_001042723.1:c.14247C>G NP_001036188.1:p.His4749Gln
XM_006723317.1:c.14244C>G XP_006723380.1:p.His4748Gln
XM_006723319.1:c.14229C>G XP_006723382.1:p.His4743Gln
XM_011527204.1:c.14259C>G XP_011525506.1:p.His4753Gln
XM_011527205.1:c.14175C>G XP_011525507.1:p.His4725Gln
XM_006723317.2:c.14244C>G XP_006723380.1:p.His4748Gln
XM_006723319.2:c.14229C>G XP_006723382.1:p.His4743Gln
XM_011527205.2:c.14175C>G XP_011525507.1:p.His4725Gln
NM_000540.3:c.14262C>G MANE Select NP_000531.2:p.His4754Gln
NM_001042723.2:c.14247C>G NP_001036188.1:p.His4749Gln
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