Canonical Allele Identifier: CA064203
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590508
ClinVar RCV Id: RCV000721479 RCV001592928 RCV002535004
dbSNP Id: rs778241277
ExAC: 19:38956784 G / A
gnomAD v2: 19-38956784-G-A
gnomAD v3: 19-38466144-G-A
gnomAD v4: 19-38466144-G-A
MyVariant Identifiers: chr19:g.38956784G>A (hg19) chr19:g.38466144G>A (hg38)
ERepo: CA064203/MONDO:0007783/012
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38466144G>A , CM000681.2:g.38466144G>A GRCh38
NC_000019.9:g.38956784G>A , CM000681.1:g.38956784G>A GRCh37
NC_000019.8:g.43648624G>A NCBI36
NG_008866.1:g.37445G>A , LRG_766:g.37445G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.2924G>A ENSP00000471601.2:p.Arg975Gln
ENST00000359596.8:c.2924G>A MANE Select ENSP00000352608.2:p.Arg975Gln
ENST00000355481.8:c.2924G>A ENSP00000347667.3:p.Arg975Gln
ENST00000359596.7:c.2924G>A ENSP00000352608.2:p.Arg975Gln
ENST00000360985.7:c.2924G>A ENSP00000354254.4:p.Arg975Gln
ENST00000594111.1:n.17G>A
NM_000540.2:c.2924G>A , LRG_766t1:c.2924G>A NP_000531.2:p.Arg975Gln
NM_001042723.1:c.2924G>A NP_001036188.1:p.Arg975Gln
XM_006723317.1:c.2924G>A XP_006723380.1:p.Arg975Gln
XM_006723319.1:c.2924G>A XP_006723382.1:p.Arg975Gln
XM_011527204.1:c.2921G>A XP_011525506.1:p.Arg974Gln
XM_011527205.1:c.2924G>A XP_011525507.1:p.Arg975Gln
XM_006723317.2:c.2924G>A XP_006723380.1:p.Arg975Gln
XM_006723319.2:c.2924G>A XP_006723382.1:p.Arg975Gln
XM_011527205.2:c.2924G>A XP_011525507.1:p.Arg975Gln
XR_001753735.1:n.3007G>A
NM_000540.3:c.2924G>A MANE Select NP_000531.2:p.Arg975Gln
NM_001042723.2:c.2924G>A NP_001036188.1:p.Arg975Gln
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