Canonical Allele Identifier: CA658799221
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 544507
ClinVar RCV Id: RCV000655690
dbSNP Id: rs1555803356
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578001_38578002delinsCA , CM000681.2:g.38578001_38578002delinsCA GRCh38
NC_000019.9:g.39068641_39068642delinsCA , CM000681.1:g.39068641_39068642delinsCA GRCh37
NC_000019.8:g.43760481_43760482delinsCA NCBI36
NG_008866.1:g.149302_149303delinsCA , LRG_766:g.149302_149303delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1192_1193delinsCA
ENST00000688602.1:c.2589_2590delinsCA
ENST00000689936.1:c.2561_2562delinsCA
ENST00000359596.8:c.14256_14257delinsCA MANE Select ENSP00000352608.2:p.Ala4753Thr
ENST00000355481.8:c.14241_14242delinsCA ENSP00000347667.3:p.Ala4748Thr
ENST00000359596.7:c.14256_14257delinsCA ENSP00000352608.2:p.Ala4753Thr
ENST00000360985.7:c.14238_14239delinsCA ENSP00000354254.4:p.Ala4747Thr
NM_000540.2:c.14256_14257delinsCA , LRG_766t1:c.14256_14257delinsCA NP_000531.2:p.Ala4753Thr
NM_001042723.1:c.14241_14242delinsCA NP_001036188.1:p.Ala4748Thr
XM_006723317.1:c.14238_14239delinsCA XP_006723380.1:p.Ala4747Thr
XM_006723319.1:c.14223_14224delinsCA XP_006723382.1:p.Ala4742Thr
XM_011527204.1:c.14253_14254delinsCA XP_011525506.1:p.Ala4752Thr
XM_011527205.1:c.14169_14170delinsCA XP_011525507.1:p.Ala4724Thr
XM_006723317.2:c.14238_14239delinsCA XP_006723380.1:p.Ala4747Thr
XM_006723319.2:c.14223_14224delinsCA XP_006723382.1:p.Ala4742Thr
XM_011527205.2:c.14169_14170delinsCA XP_011525507.1:p.Ala4724Thr
NM_000540.3:c.14256_14257delinsCA MANE Select NP_000531.2:p.Ala4753Thr
NM_001042723.2:c.14241_14242delinsCA NP_001036188.1:p.Ala4748Thr
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