Canonical Allele Identifier: CA308114586
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1020907004
gnomAD v3: 19-38572975-C-G
gnomAD v4: 19-38572975-C-G
MyVariant Identifiers: chr19:g.39063615C>G (hg19) chr19:g.38572975C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38572975C>G , CM000681.2:g.38572975C>G GRCh38
NC_000019.9:g.39063615C>G , CM000681.1:g.39063615C>G GRCh37
NC_000019.8:g.43755455C>G NCBI36
NG_008866.1:g.144276C>G , LRG_766:g.144276C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.935-202C>G
ENST00000688602.1:c.2332-202C>G
ENST00000689936.1:c.2304-202C>G
ENST00000359596.8:c.13999-202C>G MANE Select ENSP00000352608.2:n.13999-202C>G
ENST00000355481.8:c.13984-202C>G ENSP00000347667.3:n.13984-202C>G
ENST00000359596.7:c.13999-202C>G ENSP00000352608.2:n.13999-202C>G
ENST00000360985.7:c.13981-202C>G ENSP00000354254.4:n.13981-202C>G
NM_000540.2:c.13999-202C>G , LRG_766t1:c.13999-202C>G NP_000531.2:n.13999-202C>G
NM_001042723.1:c.13984-202C>G NP_001036188.1:n.13984-202C>G
XM_006723317.1:c.13981-202C>G XP_006723380.1:n.13981-202C>G
XM_006723319.1:c.13966-202C>G XP_006723382.1:n.13966-202C>G
XM_011527204.1:c.13996-202C>G XP_011525506.1:n.13996-202C>G
XM_011527205.1:c.13912-202C>G XP_011525507.1:n.13912-202C>G
XM_006723317.2:c.13981-202C>G XP_006723380.1:n.13981-202C>G
XM_006723319.2:c.13966-202C>G XP_006723382.1:n.13966-202C>G
XM_011527205.2:c.13912-202C>G XP_011525507.1:n.13912-202C>G
NM_000540.3:c.13999-202C>G MANE Select NP_000531.2:n.13999-202C>G
NM_001042723.2:c.13984-202C>G NP_001036188.1:n.13984-202C>G
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