Canonical Allele Identifier: CA405684388
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38577961-C-G
MyVariant Identifiers: chr19:g.39068601C>G (hg19) chr19:g.38577961C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577961C>G , CM000681.2:g.38577961C>G GRCh38
NC_000019.9:g.39068601C>G , CM000681.1:g.39068601C>G GRCh37
NC_000019.8:g.43760441C>G NCBI36
NG_008866.1:g.149262C>G , LRG_766:g.149262C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1152C>G
ENST00000688602.1:c.2549C>G
ENST00000689936.1:c.2521C>G
ENST00000359596.8:c.14216C>G MANE Select ENSP00000352608.2:p.Ala4739Gly
ENST00000355481.8:c.14201C>G ENSP00000347667.3:p.Ala4734Gly
ENST00000359596.7:c.14216C>G ENSP00000352608.2:p.Ala4739Gly
ENST00000360985.7:c.14198C>G ENSP00000354254.4:p.Ala4733Gly
NM_000540.2:c.14216C>G , LRG_766t1:c.14216C>G NP_000531.2:p.Ala4739Gly
NM_001042723.1:c.14201C>G NP_001036188.1:p.Ala4734Gly
XM_006723317.1:c.14198C>G XP_006723380.1:p.Ala4733Gly
XM_006723319.1:c.14183C>G XP_006723382.1:p.Ala4728Gly
XM_011527204.1:c.14213C>G XP_011525506.1:p.Ala4738Gly
XM_011527205.1:c.14129C>G XP_011525507.1:p.Ala4710Gly
XM_006723317.2:c.14198C>G XP_006723380.1:p.Ala4733Gly
XM_006723319.2:c.14183C>G XP_006723382.1:p.Ala4728Gly
XM_011527205.2:c.14129C>G XP_011525507.1:p.Ala4710Gly
NM_000540.3:c.14216C>G MANE Select NP_000531.2:p.Ala4739Gly
NM_001042723.2:c.14201C>G NP_001036188.1:p.Ala4734Gly
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