Canonical Allele Identifier: CA2736063035
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs2145888989
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578123_38578124insGGGG , CM000681.2:g.38578123_38578124insGGGG GRCh38
NC_000019.9:g.39068763_39068764insGGGG , CM000681.1:g.39068763_39068764insGGGG GRCh37
NC_000019.8:g.43760603_43760604insGGGG NCBI36
NG_008866.1:g.149424_149425insGGGG , LRG_766:g.149424_149425insGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1240-21_1240-20insGGGG
ENST00000688602.1:c.2637-21_2637-20insGGGG
ENST00000689936.1:c.2609-21_2609-20insGGGG
ENST00000359596.8:c.14304-21_14304-20insGGGG MANE Select ENSP00000352608.2:n.14304-21_14304-20insGGGG
ENST00000355481.8:c.14289-21_14289-20insGGGG ENSP00000347667.3:n.14289-21_14289-20insGGGG
ENST00000359596.7:c.14304-21_14304-20insGGGG ENSP00000352608.2:n.14304-21_14304-20insGGGG
ENST00000360985.7:c.14286-21_14286-20insGGGG ENSP00000354254.4:n.14286-21_14286-20insGGGG
NM_000540.2:c.14304-21_14304-20insGGGG , LRG_766t1:c.14304-21_14304-20insGGGG NP_000531.2:n.14304-21_14304-20insGGGG
NM_001042723.1:c.14289-21_14289-20insGGGG NP_001036188.1:n.14289-21_14289-20insGGGG
XM_006723317.1:c.14286-21_14286-20insGGGG XP_006723380.1:n.14286-21_14286-20insGGGG
XM_006723319.1:c.14271-21_14271-20insGGGG XP_006723382.1:n.14271-21_14271-20insGGGG
XM_011527204.1:c.14301-21_14301-20insGGGG XP_011525506.1:n.14301-21_14301-20insGGGG
XM_011527205.1:c.14217-21_14217-20insGGGG XP_011525507.1:n.14217-21_14217-20insGGGG
XM_006723317.2:c.14286-21_14286-20insGGGG XP_006723380.1:n.14286-21_14286-20insGGGG
XM_006723319.2:c.14271-21_14271-20insGGGG XP_006723382.1:n.14271-21_14271-20insGGGG
XM_011527205.2:c.14217-21_14217-20insGGGG XP_011525507.1:n.14217-21_14217-20insGGGG
NM_000540.3:c.14304-21_14304-20insGGGG MANE Select NP_000531.2:n.14304-21_14304-20insGGGG
NM_001042723.2:c.14289-21_14289-20insGGGG NP_001036188.1:n.14289-21_14289-20insGGGG
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