Canonical Allele Identifier: CA2576827493
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578293T>C , CM000681.2:g.38578293T>C GRCh38
NC_000019.9:g.39068933T>C , CM000681.1:g.39068933T>C GRCh37
NC_000019.8:g.43760773T>C NCBI36
NG_008866.1:g.149594T>C , LRG_766:g.149594T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1300+89T>C
ENST00000688602.1:c.2697+89T>C
ENST00000689936.1:c.2669+89T>C
ENST00000359596.8:c.14364+89T>C MANE Select ENSP00000352608.2:n.14364+89T>C
ENST00000355481.8:c.14349+89T>C ENSP00000347667.3:n.14349+89T>C
ENST00000359596.7:c.14364+89T>C ENSP00000352608.2:n.14364+89T>C
ENST00000360985.7:c.14346+89T>C ENSP00000354254.4:n.14346+89T>C
NM_000540.2:c.14364+89T>C , LRG_766t1:c.14364+89T>C NP_000531.2:n.14364+89T>C
NM_001042723.1:c.14349+89T>C NP_001036188.1:n.14349+89T>C
XM_006723317.1:c.14346+89T>C XP_006723380.1:n.14346+89T>C
XM_006723319.1:c.14331+89T>C XP_006723382.1:n.14331+89T>C
XM_011527204.1:c.14361+89T>C XP_011525506.1:n.14361+89T>C
XM_011527205.1:c.14277+89T>C XP_011525507.1:n.14277+89T>C
XM_006723317.2:c.14346+89T>C XP_006723380.1:n.14346+89T>C
XM_006723319.2:c.14331+89T>C XP_006723382.1:n.14331+89T>C
XM_011527205.2:c.14277+89T>C XP_011525507.1:n.14277+89T>C
NM_000540.3:c.14364+89T>C MANE Select NP_000531.2:n.14364+89T>C
NM_001042723.2:c.14349+89T>C NP_001036188.1:n.14349+89T>C
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