Canonical Allele Identifier: CA061027
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 698340
ClinVar RCV Id: RCV000865711
dbSNP Id: rs773793941
ExAC: 19:39068659 G / A
gnomAD v2: 19-39068659-G-A
gnomAD v3: 19-38578019-G-A
gnomAD v4: 19-38578019-G-A
MyVariant Identifiers: chr19:g.39068659G>A (hg19) chr19:g.38578019G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578019G>A , CM000681.2:g.38578019G>A GRCh38
NC_000019.9:g.39068659G>A , CM000681.1:g.39068659G>A GRCh37
NC_000019.8:g.43760499G>A NCBI36
NG_008866.1:g.149320G>A , LRG_766:g.149320G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1210G>A
ENST00000688602.1:c.2607G>A
ENST00000689936.1:c.2579G>A
ENST00000359596.8:c.14274G>A MANE Select ENSP00000352608.2:p.Lys4758=
ENST00000355481.8:c.14259G>A ENSP00000347667.3:p.Lys4753=
ENST00000359596.7:c.14274G>A ENSP00000352608.2:p.Lys4758=
ENST00000360985.7:c.14256G>A ENSP00000354254.4:p.Lys4752=
NM_000540.2:c.14274G>A , LRG_766t1:c.14274G>A NP_000531.2:p.Lys4758=
NM_001042723.1:c.14259G>A NP_001036188.1:p.Lys4753=
XM_006723317.1:c.14256G>A XP_006723380.1:p.Lys4752=
XM_006723319.1:c.14241G>A XP_006723382.1:p.Lys4747=
XM_011527204.1:c.14271G>A XP_011525506.1:p.Lys4757=
XM_011527205.1:c.14187G>A XP_011525507.1:p.Lys4729=
XM_006723317.2:c.14256G>A XP_006723380.1:p.Lys4752=
XM_006723319.2:c.14241G>A XP_006723382.1:p.Lys4747=
XM_011527205.2:c.14187G>A XP_011525507.1:p.Lys4729=
NM_000540.3:c.14274G>A MANE Select NP_000531.2:p.Lys4758=
NM_001042723.2:c.14259G>A NP_001036188.1:p.Lys4753=
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