Canonical Allele Identifier: CA061040
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1800878
ClinVar RCV Id: RCV002462475 RCV003103127
dbSNP Id: rs146793368
ExAC: 19:39068670 C / T
gnomAD v2: 19-39068670-C-T
gnomAD v3: 19-38578030-C-T
gnomAD v4: 19-38578030-C-T
MyVariant Identifiers: chr19:g.39068670C>T (hg19) chr19:g.38578030C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578030C>T , CM000681.2:g.38578030C>T GRCh38
NC_000019.9:g.39068670C>T , CM000681.1:g.39068670C>T GRCh37
NC_000019.8:g.43760510C>T NCBI36
NG_008866.1:g.149331C>T , LRG_766:g.149331C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1221C>T
ENST00000688602.1:c.2618C>T
ENST00000689936.1:c.2590C>T
ENST00000359596.8:c.14285C>T MANE Select ENSP00000352608.2:p.Pro4762Leu
ENST00000355481.8:c.14270C>T ENSP00000347667.3:p.Pro4757Leu
ENST00000359596.7:c.14285C>T ENSP00000352608.2:p.Pro4762Leu
ENST00000360985.7:c.14267C>T ENSP00000354254.4:p.Pro4756Leu
NM_000540.2:c.14285C>T , LRG_766t1:c.14285C>T NP_000531.2:p.Pro4762Leu
NM_001042723.1:c.14270C>T NP_001036188.1:p.Pro4757Leu
XM_006723317.1:c.14267C>T XP_006723380.1:p.Pro4756Leu
XM_006723319.1:c.14252C>T XP_006723382.1:p.Pro4751Leu
XM_011527204.1:c.14282C>T XP_011525506.1:p.Pro4761Leu
XM_011527205.1:c.14198C>T XP_011525507.1:p.Pro4733Leu
XM_006723317.2:c.14267C>T XP_006723380.1:p.Pro4756Leu
XM_006723319.2:c.14252C>T XP_006723382.1:p.Pro4751Leu
XM_011527205.2:c.14198C>T XP_011525507.1:p.Pro4733Leu
NM_000540.3:c.14285C>T MANE Select NP_000531.2:p.Pro4762Leu
NM_001042723.2:c.14270C>T NP_001036188.1:p.Pro4757Leu
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