Canonical Allele Identifier: CA405673885
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 872586
ClinVar RCV Id: RCV001093150 RCV001803224 RCV002557967
dbSNP Id: rs914804033
gnomAD v4: 19-38502923-G-A
MyVariant Identifiers: chr19:g.38993563G>A (hg19) chr19:g.38502923G>A (hg38)
ERepo: CA405673885/MONDO:0018493/012
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502923G>A , CM000681.2:g.38502923G>A GRCh38
NC_000019.9:g.38993563G>A , CM000681.1:g.38993563G>A GRCh37
NC_000019.8:g.43685403G>A NCBI36
NG_008866.1:g.74224G>A , LRG_766:g.74224G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7879G>A ENSP00000471601.2:p.Val2627Met
ENST00000359596.8:c.7879G>A MANE Select ENSP00000352608.2:p.Val2627Met
ENST00000355481.8:c.7879G>A ENSP00000347667.3:p.Val2627Met
ENST00000359596.7:c.7879G>A ENSP00000352608.2:p.Val2627Met
ENST00000360985.7:c.7876G>A ENSP00000354254.4:p.Val2626Met
ENST00000594335.5:c.1331G>A
NM_000540.2:c.7879G>A , LRG_766t1:c.7879G>A NP_000531.2:p.Val2627Met
NM_001042723.1:c.7879G>A NP_001036188.1:p.Val2627Met
XM_006723317.1:c.7879G>A XP_006723380.1:p.Val2627Met
XM_006723319.1:c.7879G>A XP_006723382.1:p.Val2627Met
XM_011527204.1:c.7876G>A XP_011525506.1:p.Val2626Met
XM_011527205.1:c.7879G>A XP_011525507.1:p.Val2627Met
XM_006723317.2:c.7879G>A XP_006723380.1:p.Val2627Met
XM_006723319.2:c.7879G>A XP_006723382.1:p.Val2627Met
XM_011527205.2:c.7879G>A XP_011525507.1:p.Val2627Met
XR_001753735.1:n.7962G>A
NM_000540.3:c.7879G>A MANE Select NP_000531.2:p.Val2627Met
NM_001042723.2:c.7879G>A NP_001036188.1:p.Val2627Met
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