Canonical Allele Identifier: CA405653094
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2176731
ClinVar RCV Id: RCV002602691
gnomAD v4: 19-38485672-T-G
MyVariant Identifiers: chr19:g.38976312T>G (hg19) chr19:g.38485672T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38485672T>G , CM000681.2:g.38485672T>G GRCh38
NC_000019.9:g.38976312T>G , CM000681.1:g.38976312T>G GRCh37
NC_000019.8:g.43668152T>G NCBI36
NG_008866.1:g.56973T>G , LRG_766:g.56973T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.5017T>G ENSP00000471601.2:p.Cys1673Gly
ENST00000359596.8:c.5017T>G MANE Select ENSP00000352608.2:p.Cys1673Gly
ENST00000355481.8:c.5017T>G ENSP00000347667.3:p.Cys1673Gly
ENST00000359596.7:c.5017T>G ENSP00000352608.2:p.Cys1673Gly
ENST00000360985.7:c.5014T>G ENSP00000354254.4:p.Cys1672Gly
NM_000540.2:c.5017T>G , LRG_766t1:c.5017T>G NP_000531.2:p.Cys1673Gly
NM_001042723.1:c.5017T>G NP_001036188.1:p.Cys1673Gly
XM_006723317.1:c.5017T>G XP_006723380.1:p.Cys1673Gly
XM_006723319.1:c.5017T>G XP_006723382.1:p.Cys1673Gly
XM_011527204.1:c.5014T>G XP_011525506.1:p.Cys1672Gly
XM_011527205.1:c.5017T>G XP_011525507.1:p.Cys1673Gly
XM_006723317.2:c.5017T>G XP_006723380.1:p.Cys1673Gly
XM_006723319.2:c.5017T>G XP_006723382.1:p.Cys1673Gly
XM_011527205.2:c.5017T>G XP_011525507.1:p.Cys1673Gly
XR_001753735.1:n.5100T>G
NM_000540.3:c.5017T>G MANE Select NP_000531.2:p.Cys1673Gly
NM_001042723.2:c.5017T>G NP_001036188.1:p.Cys1673Gly
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