Canonical Allele Identifier: CA405650411
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 478157
ClinVar RCV Id: RCV000538941 RCV001449990
dbSNP Id: rs1555791418
MyVariant Identifiers: chr19:g.39019682C>T (hg19) chr19:g.38529042C>T (hg38)
ERepo: CA405650411/MONDO:0007783/012
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38529042C>T , CM000681.2:g.38529042C>T GRCh38
NC_000019.9:g.39019682C>T , CM000681.1:g.39019682C>T GRCh37
NC_000019.8:g.43711522C>T NCBI36
NG_008866.1:g.100343C>T , LRG_766:g.100343C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.11065C>T ENSP00000471601.2:n.11065C>T
ENST00000359596.8:c.11126C>T MANE Select ENSP00000352608.2:p.Ala3709Val
ENST00000355481.8:c.11111C>T ENSP00000347667.3:p.Ala3704Val
ENST00000359596.7:c.11126C>T ENSP00000352608.2:p.Ala3709Val
ENST00000360985.7:c.11108C>T ENSP00000354254.4:p.Ala3703Val
ENST00000594335.5:c.4513C>T
ENST00000599547.5:c.1933C>T
ENST00000601514.5:c.407C>T ENSP00000472497.1:p.Ala136Val
NM_000540.2:c.11126C>T , LRG_766t1:c.11126C>T NP_000531.2:p.Ala3709Val
NM_001042723.1:c.11111C>T NP_001036188.1:p.Ala3704Val
XM_006723317.1:c.11126C>T XP_006723380.1:p.Ala3709Val
XM_006723319.1:c.11111C>T XP_006723382.1:p.Ala3704Val
XM_011527204.1:c.11123C>T XP_011525506.1:p.Ala3708Val
XM_011527205.1:c.11126C>T XP_011525507.1:p.Ala3709Val
XM_006723317.2:c.11126C>T XP_006723380.1:p.Ala3709Val
XM_006723319.2:c.11111C>T XP_006723382.1:p.Ala3704Val
XM_011527205.2:c.11126C>T XP_011525507.1:p.Ala3709Val
NM_000540.3:c.11126C>T MANE Select NP_000531.2:p.Ala3709Val
NM_001042723.2:c.11111C>T NP_001036188.1:p.Ala3704Val
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