Canonical Allele Identifier: CA2584910714
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38578124-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578124C>T , CM000681.2:g.38578124C>T GRCh38
NC_000019.9:g.39068764C>T , CM000681.1:g.39068764C>T GRCh37
NC_000019.8:g.43760604C>T NCBI36
NG_008866.1:g.149425C>T , LRG_766:g.149425C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1240-20C>T
ENST00000688602.1:c.2637-20C>T
ENST00000689936.1:c.2609-20C>T
ENST00000359596.8:c.14304-20C>T MANE Select ENSP00000352608.2:n.14304-20C>T
ENST00000355481.8:c.14289-20C>T ENSP00000347667.3:n.14289-20C>T
ENST00000359596.7:c.14304-20C>T ENSP00000352608.2:n.14304-20C>T
ENST00000360985.7:c.14286-20C>T ENSP00000354254.4:n.14286-20C>T
NM_000540.2:c.14304-20C>T , LRG_766t1:c.14304-20C>T NP_000531.2:n.14304-20C>T
NM_001042723.1:c.14289-20C>T NP_001036188.1:n.14289-20C>T
XM_006723317.1:c.14286-20C>T XP_006723380.1:n.14286-20C>T
XM_006723319.1:c.14271-20C>T XP_006723382.1:n.14271-20C>T
XM_011527204.1:c.14301-20C>T XP_011525506.1:n.14301-20C>T
XM_011527205.1:c.14217-20C>T XP_011525507.1:n.14217-20C>T
XM_006723317.2:c.14286-20C>T XP_006723380.1:n.14286-20C>T
XM_006723319.2:c.14271-20C>T XP_006723382.1:n.14271-20C>T
XM_011527205.2:c.14217-20C>T XP_011525507.1:n.14217-20C>T
NM_000540.3:c.14304-20C>T MANE Select NP_000531.2:n.14304-20C>T
NM_001042723.2:c.14289-20C>T NP_001036188.1:n.14289-20C>T
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