Canonical Allele Identifier: CA632875316
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1467766087
gnomAD v2: 19-39063628-C-CGT
gnomAD v3: 19-38572988-C-CGT
gnomAD v4: 19-38572988-C-CGT
MyVariant Identifiers: chr19:g.39063628_39063629insGT (hg19) chr19:g.38572988_38572989insGT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38572988_38572989insGT , CM000681.2:g.38572988_38572989insGT GRCh38
NC_000019.9:g.39063628_39063629insGT , CM000681.1:g.39063628_39063629insGT GRCh37
NC_000019.8:g.43755468_43755469insGT NCBI36
NG_008866.1:g.144289_144290insGT , LRG_766:g.144289_144290insGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.935-189_935-188insGT
ENST00000688602.1:c.2332-189_2332-188insGT
ENST00000689936.1:c.2304-189_2304-188insGT
ENST00000359596.8:c.13999-189_13999-188insGT MANE Select ENSP00000352608.2:n.13999-189_13999-188insGT
ENST00000355481.8:c.13984-189_13984-188insGT ENSP00000347667.3:n.13984-189_13984-188insGT
ENST00000359596.7:c.13999-189_13999-188insGT ENSP00000352608.2:n.13999-189_13999-188insGT
ENST00000360985.7:c.13981-189_13981-188insGT ENSP00000354254.4:n.13981-189_13981-188insGT
NM_000540.2:c.13999-189_13999-188insGT , LRG_766t1:c.13999-189_13999-188insGT NP_000531.2:n.13999-189_13999-188insGT
NM_001042723.1:c.13984-189_13984-188insGT NP_001036188.1:n.13984-189_13984-188insGT
XM_006723317.1:c.13981-189_13981-188insGT XP_006723380.1:n.13981-189_13981-188insGT
XM_006723319.1:c.13966-189_13966-188insGT XP_006723382.1:n.13966-189_13966-188insGT
XM_011527204.1:c.13996-189_13996-188insGT XP_011525506.1:n.13996-189_13996-188insGT
XM_011527205.1:c.13912-189_13912-188insGT XP_011525507.1:n.13912-189_13912-188insGT
XM_006723317.2:c.13981-189_13981-188insGT XP_006723380.1:n.13981-189_13981-188insGT
XM_006723319.2:c.13966-189_13966-188insGT XP_006723382.1:n.13966-189_13966-188insGT
XM_011527205.2:c.13912-189_13912-188insGT XP_011525507.1:n.13912-189_13912-188insGT
NM_000540.3:c.13999-189_13999-188insGT MANE Select NP_000531.2:n.13999-189_13999-188insGT
NM_001042723.2:c.13984-189_13984-188insGT NP_001036188.1:n.13984-189_13984-188insGT
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