Canonical Allele Identifier: CA405684136
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38577921-C-G
MyVariant Identifiers: chr19:g.39068561C>G (hg19) chr19:g.38577921C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577921C>G , CM000681.2:g.38577921C>G GRCh38
NC_000019.9:g.39068561C>G , CM000681.1:g.39068561C>G GRCh37
NC_000019.8:g.43760401C>G NCBI36
NG_008866.1:g.149222C>G , LRG_766:g.149222C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1112C>G
ENST00000688602.1:c.2509C>G
ENST00000689936.1:c.2481C>G
ENST00000359596.8:c.14176C>G MANE Select ENSP00000352608.2:p.Leu4726Val
ENST00000355481.8:c.14161C>G ENSP00000347667.3:p.Leu4721Val
ENST00000359596.7:c.14176C>G ENSP00000352608.2:p.Leu4726Val
ENST00000360985.7:c.14158C>G ENSP00000354254.4:p.Leu4720Val
NM_000540.2:c.14176C>G , LRG_766t1:c.14176C>G NP_000531.2:p.Leu4726Val
NM_001042723.1:c.14161C>G NP_001036188.1:p.Leu4721Val
XM_006723317.1:c.14158C>G XP_006723380.1:p.Leu4720Val
XM_006723319.1:c.14143C>G XP_006723382.1:p.Leu4715Val
XM_011527204.1:c.14173C>G XP_011525506.1:p.Leu4725Val
XM_011527205.1:c.14089C>G XP_011525507.1:p.Leu4697Val
XM_006723317.2:c.14158C>G XP_006723380.1:p.Leu4720Val
XM_006723319.2:c.14143C>G XP_006723382.1:p.Leu4715Val
XM_011527205.2:c.14089C>G XP_011525507.1:p.Leu4697Val
NM_000540.3:c.14176C>G MANE Select NP_000531.2:p.Leu4726Val
NM_001042723.2:c.14161C>G NP_001036188.1:p.Leu4721Val
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