Canonical Allele Identifier: CA405685098
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3073910
ClinVar RCV Id: RCV004012452
MyVariant Identifiers: chr19:g.39068799T>G (hg19) chr19:g.38578159T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578159T>G , CM000681.2:g.38578159T>G GRCh38
NC_000019.9:g.39068799T>G , CM000681.1:g.39068799T>G GRCh37
NC_000019.8:g.43760639T>G NCBI36
NG_008866.1:g.149460T>G , LRG_766:g.149460T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1255T>G
ENST00000688602.1:c.2652T>G
ENST00000689936.1:c.2624T>G
ENST00000359596.8:c.14319T>G MANE Select ENSP00000352608.2:p.Asp4773Glu
ENST00000355481.8:c.14304T>G ENSP00000347667.3:p.Asp4768Glu
ENST00000359596.7:c.14319T>G ENSP00000352608.2:p.Asp4773Glu
ENST00000360985.7:c.14301T>G ENSP00000354254.4:p.Asp4767Glu
NM_000540.2:c.14319T>G , LRG_766t1:c.14319T>G NP_000531.2:p.Asp4773Glu
NM_001042723.1:c.14304T>G NP_001036188.1:p.Asp4768Glu
XM_006723317.1:c.14301T>G XP_006723380.1:p.Asp4767Glu
XM_006723319.1:c.14286T>G XP_006723382.1:p.Asp4762Glu
XM_011527204.1:c.14316T>G XP_011525506.1:p.Asp4772Glu
XM_011527205.1:c.14232T>G XP_011525507.1:p.Asp4744Glu
XM_006723317.2:c.14301T>G XP_006723380.1:p.Asp4767Glu
XM_006723319.2:c.14286T>G XP_006723382.1:p.Asp4762Glu
XM_011527205.2:c.14232T>G XP_011525507.1:p.Asp4744Glu
NM_000540.3:c.14319T>G MANE Select NP_000531.2:p.Asp4773Glu
NM_001042723.2:c.14304T>G NP_001036188.1:p.Asp4768Glu
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