Canonical Allele Identifier: CA2584910732
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38578128-A-ACC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578132_38578133dup , CM000681.2:g.38578132_38578133dup GRCh38
NC_000019.9:g.39068772_39068773dup , CM000681.1:g.39068772_39068773dup GRCh37
NC_000019.8:g.43760612_43760613dup NCBI36
NG_008866.1:g.149433_149434dup , LRG_766:g.149433_149434dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1240-12_1240-11dup
ENST00000688602.1:c.2637-12_2637-11dup
ENST00000689936.1:c.2609-12_2609-11dup
ENST00000359596.8:c.14304-12_14304-11dup MANE Select ENSP00000352608.2:n.14304-12_14304-11dup
ENST00000355481.8:c.14289-12_14289-11dup ENSP00000347667.3:n.14289-12_14289-11dup
ENST00000359596.7:c.14304-12_14304-11dup ENSP00000352608.2:n.14304-12_14304-11dup
ENST00000360985.7:c.14286-12_14286-11dup ENSP00000354254.4:n.14286-12_14286-11dup
NM_000540.2:c.14304-12_14304-11dup , LRG_766t1:c.14304-12_14304-11dup NP_000531.2:n.14304-12_14304-11dup
NM_001042723.1:c.14289-12_14289-11dup NP_001036188.1:n.14289-12_14289-11dup
XM_006723317.1:c.14286-12_14286-11dup XP_006723380.1:n.14286-12_14286-11dup
XM_006723319.1:c.14271-12_14271-11dup XP_006723382.1:n.14271-12_14271-11dup
XM_011527204.1:c.14301-12_14301-11dup XP_011525506.1:n.14301-12_14301-11dup
XM_011527205.1:c.14217-12_14217-11dup XP_011525507.1:n.14217-12_14217-11dup
XM_006723317.2:c.14286-12_14286-11dup XP_006723380.1:n.14286-12_14286-11dup
XM_006723319.2:c.14271-12_14271-11dup XP_006723382.1:n.14271-12_14271-11dup
XM_011527205.2:c.14217-12_14217-11dup XP_011525507.1:n.14217-12_14217-11dup
NM_000540.3:c.14304-12_14304-11dup MANE Select NP_000531.2:n.14304-12_14304-11dup
NM_001042723.2:c.14289-12_14289-11dup NP_001036188.1:n.14289-12_14289-11dup
Search 100 bp 5'
Search 100 bp 3'