Canonical Allele Identifier: CA405652761
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.38485629_38485635del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38485629_38485635del , CM000681.2:g.38485629_38485635del GRCh38
NC_000019.9:g.38976269_38976275del , CM000681.1:g.38976269_38976275del GRCh37
NC_000019.8:g.43668109_43668115del NCBI36
NG_008866.1:g.56930_56936del , LRG_766:g.56930_56936del

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.4974_4980del ENSP00000471601.2:p.Gln1659SerfsTer28
ENST00000359596.8:c.4974_4980del MANE Select ENSP00000352608.2:p.Gln1659SerfsTer28
ENST00000355481.8:c.4974_4980del ENSP00000347667.3:p.Gln1659SerfsTer28
ENST00000359596.7:c.4974_4980del ENSP00000352608.2:p.Gln1659SerfsTer28
ENST00000360985.7:c.4971_4977del ENSP00000354254.4:p.Gln1658SerfsTer28
NM_000540.2:c.4974_4980del , LRG_766t1:c.4974_4980del NP_000531.2:p.Gln1659SerfsTer28
NM_001042723.1:c.4974_4980del NP_001036188.1:p.Gln1659SerfsTer28
XM_006723317.1:c.4974_4980del XP_006723380.1:p.Gln1659SerfsTer28
XM_006723319.1:c.4974_4980del XP_006723382.1:p.Gln1659SerfsTer28
XM_011527204.1:c.4971_4977del XP_011525506.1:p.Gln1658SerfsTer28
XM_011527205.1:c.4974_4980del XP_011525507.1:p.Gln1659SerfsTer28
XM_006723317.2:c.4974_4980del XP_006723380.1:p.Gln1659SerfsTer28
XM_006723319.2:c.4974_4980del XP_006723382.1:p.Gln1659SerfsTer28
XM_011527205.2:c.4974_4980del XP_011525507.1:p.Gln1659SerfsTer28
XR_001753735.1:n.5057_5063del
NM_000540.3:c.4974_4980del MANE Select NP_000531.2:p.Gln1659SerfsTer28
NM_001042723.2:c.4974_4980del NP_001036188.1:p.Gln1659SerfsTer28
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