Canonical Allele Identifier: CA024797
Gene: RYR1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.38446710G>A
GRCh37 chr19:g.38937350G>A
Revel Score:
ENST00000359596 (MANE Select) 0.889
ENST00000355481 0.889
ENST00000360985 0.889
gnomAD v4:
chr19-38446710-G-A
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38446710G>A , CM000681.2:g.38446710G>A GRCh38
NC_000019.9:g.38937350G>A , CM000681.1:g.38937350G>A GRCh37
NC_000019.8:g.43629190G>A NCBI36
NG_008866.1:g.18011G>A , LRG_766:g.18011G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.742G>A ENSP00000471601.2:p.Gly248Arg
ENST00000359596.8:c.742G>A MANE Select ENSP00000352608.2:p.Gly248Arg
ENST00000355481.8:c.742G>A ENSP00000347667.3:p.Gly248Arg
ENST00000359596.7:c.742G>A ENSP00000352608.2:p.Gly248Arg
ENST00000360985.7:c.742G>A ENSP00000354254.4:p.Gly248Arg
NM_000540.2:c.742G>A , LRG_766t1:c.742G>A NP_000531.2:p.Gly248Arg
NM_001042723.1:c.742G>A NP_001036188.1:p.Gly248Arg
XM_006723317.1:c.742G>A XP_006723380.1:p.Gly248Arg
XM_006723319.1:c.742G>A XP_006723382.1:p.Gly248Arg
XM_011527204.1:c.742G>A XP_011525506.1:p.Gly248Arg
XM_011527205.1:c.742G>A XP_011525507.1:p.Gly248Arg
XM_006723317.2:c.742G>A XP_006723380.1:p.Gly248Arg
XM_006723319.2:c.742G>A XP_006723382.1:p.Gly248Arg
XM_011527205.2:c.742G>A XP_011525507.1:p.Gly248Arg
XR_001753735.1:n.825G>A
NM_000540.3:c.742G>A MANE Select NP_000531.2:p.Gly248Arg
NM_001042723.2:c.742G>A NP_001036188.1:p.Gly248Arg
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