Canonical Allele Identifier: CA632876671
Gene: RYR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578133_38578134insCCCCCCCCCC , CM000681.2:g.38578133_38578134insCCCCCCCCCC GRCh38
NC_000019.9:g.39068773_39068774insCCCCCCCCCC , CM000681.1:g.39068773_39068774insCCCCCCCCCC GRCh37
NC_000019.8:g.43760613_43760614insCCCCCCCCCC NCBI36
NG_008866.1:g.149434_149435insCCCCCCCCCC , LRG_766:g.149434_149435insCCCCCCCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1240-11_1240-10insCCCCCCCCCC
ENST00000688602.1:c.2637-11_2637-10insCCCCCCCCCC
ENST00000689936.1:c.2609-11_2609-10insCCCCCCCCCC
ENST00000359596.8:c.14304-11_14304-10insCCCCCCCCCC MANE Select ENSP00000352608.2:n.14304-11_14304-10insCCCCCCCCCC
ENST00000355481.8:c.14289-11_14289-10insCCCCCCCCCC ENSP00000347667.3:n.14289-11_14289-10insCCCCCCCCCC
ENST00000359596.7:c.14304-11_14304-10insCCCCCCCCCC ENSP00000352608.2:n.14304-11_14304-10insCCCCCCCCCC
ENST00000360985.7:c.14286-11_14286-10insCCCCCCCCCC ENSP00000354254.4:n.14286-11_14286-10insCCCCCCCCCC
NM_000540.2:c.14304-11_14304-10insCCCCCCCCCC , LRG_766t1:c.14304-11_14304-10insCCCCCCCCCC NP_000531.2:n.14304-11_14304-10insCCCCCCCCCC
NM_001042723.1:c.14289-11_14289-10insCCCCCCCCCC NP_001036188.1:n.14289-11_14289-10insCCCCCCCCCC
XM_006723317.1:c.14286-11_14286-10insCCCCCCCCCC XP_006723380.1:n.14286-11_14286-10insCCCCCCCCCC
XM_006723319.1:c.14271-11_14271-10insCCCCCCCCCC XP_006723382.1:n.14271-11_14271-10insCCCCCCCCCC
XM_011527204.1:c.14301-11_14301-10insCCCCCCCCCC XP_011525506.1:n.14301-11_14301-10insCCCCCCCCCC
XM_011527205.1:c.14217-11_14217-10insCCCCCCCCCC XP_011525507.1:n.14217-11_14217-10insCCCCCCCCCC
XM_006723317.2:c.14286-11_14286-10insCCCCCCCCCC XP_006723380.1:n.14286-11_14286-10insCCCCCCCCCC
XM_006723319.2:c.14271-11_14271-10insCCCCCCCCCC XP_006723382.1:n.14271-11_14271-10insCCCCCCCCCC
XM_011527205.2:c.14217-11_14217-10insCCCCCCCCCC XP_011525507.1:n.14217-11_14217-10insCCCCCCCCCC
NM_000540.3:c.14304-11_14304-10insCCCCCCCCCC MANE Select NP_000531.2:n.14304-11_14304-10insCCCCCCCCCC
NM_001042723.2:c.14289-11_14289-10insCCCCCCCCCC NP_001036188.1:n.14289-11_14289-10insCCCCCCCCCC