Canonical Allele Identifier: CA068644
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 568375
ClinVar RCV Id: RCV000688714
dbSNP Id: rs750513397

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38496501C>A , CM000681.2:g.38496501C>A GRCh38
NC_000019.9:g.38987141C>A , CM000681.1:g.38987141C>A GRCh37
NC_000019.8:g.43678981C>A NCBI36
NG_008866.1:g.67802C>A , LRG_766:g.67802C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.6756C>A ENSP00000471601.2:p.Asp2252Glu
ENST00000359596.8:c.6756C>A MANE Select ENSP00000352608.2:p.Asp2252Glu
ENST00000355481.8:c.6756C>A ENSP00000347667.3:p.Asp2252Glu
ENST00000359596.7:c.6756C>A ENSP00000352608.2:p.Asp2252Glu
ENST00000360985.7:c.6753C>A ENSP00000354254.4:p.Asp2251Glu
ENST00000594335.5:c.208C>A
NM_000540.2:c.6756C>A , LRG_766t1:c.6756C>A NP_000531.2:p.Asp2252Glu
NM_001042723.1:c.6756C>A NP_001036188.1:p.Asp2252Glu
XM_006723317.1:c.6756C>A XP_006723380.1:p.Asp2252Glu
XM_006723319.1:c.6756C>A XP_006723382.1:p.Asp2252Glu
XM_011527204.1:c.6753C>A XP_011525506.1:p.Asp2251Glu
XM_011527205.1:c.6756C>A XP_011525507.1:p.Asp2252Glu
XM_006723317.2:c.6756C>A XP_006723380.1:p.Asp2252Glu
XM_006723319.2:c.6756C>A XP_006723382.1:p.Asp2252Glu
XM_011527205.2:c.6756C>A XP_011525507.1:p.Asp2252Glu
XR_001753735.1:n.6839C>A
NM_000540.3:c.6756C>A MANE Select NP_000531.2:p.Asp2252Glu
NM_001042723.2:c.6756C>A NP_001036188.1:p.Asp2252Glu