Canonical Allele Identifier: CA2584910725
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38578123-T-TCCC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578125_38578127dup , CM000681.2:g.38578125_38578127dup GRCh38
NC_000019.9:g.39068765_39068767dup , CM000681.1:g.39068765_39068767dup GRCh37
NC_000019.8:g.43760605_43760607dup NCBI36
NG_008866.1:g.149426_149428dup , LRG_766:g.149426_149428dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1240-19_1240-17dup
ENST00000688602.1:c.2637-19_2637-17dup
ENST00000689936.1:c.2609-19_2609-17dup
ENST00000359596.8:c.14304-19_14304-17dup MANE Select ENSP00000352608.2:n.14304-19_14304-17dup
ENST00000355481.8:c.14289-19_14289-17dup ENSP00000347667.3:n.14289-19_14289-17dup
ENST00000359596.7:c.14304-19_14304-17dup ENSP00000352608.2:n.14304-19_14304-17dup
ENST00000360985.7:c.14286-19_14286-17dup ENSP00000354254.4:n.14286-19_14286-17dup
NM_000540.2:c.14304-19_14304-17dup , LRG_766t1:c.14304-19_14304-17dup NP_000531.2:n.14304-19_14304-17dup
NM_001042723.1:c.14289-19_14289-17dup NP_001036188.1:n.14289-19_14289-17dup
XM_006723317.1:c.14286-19_14286-17dup XP_006723380.1:n.14286-19_14286-17dup
XM_006723319.1:c.14271-19_14271-17dup XP_006723382.1:n.14271-19_14271-17dup
XM_011527204.1:c.14301-19_14301-17dup XP_011525506.1:n.14301-19_14301-17dup
XM_011527205.1:c.14217-19_14217-17dup XP_011525507.1:n.14217-19_14217-17dup
XM_006723317.2:c.14286-19_14286-17dup XP_006723380.1:n.14286-19_14286-17dup
XM_006723319.2:c.14271-19_14271-17dup XP_006723382.1:n.14271-19_14271-17dup
XM_011527205.2:c.14217-19_14217-17dup XP_011525507.1:n.14217-19_14217-17dup
NM_000540.3:c.14304-19_14304-17dup MANE Select NP_000531.2:n.14304-19_14304-17dup
NM_001042723.2:c.14289-19_14289-17dup NP_001036188.1:n.14289-19_14289-17dup
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