Canonical Allele Identifier: CA2335088926
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1973796876
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38573108_38573109dup , CM000681.2:g.38573108_38573109dup GRCh38
NC_000019.9:g.39063748_39063749dup , CM000681.1:g.39063748_39063749dup GRCh37
NC_000019.8:g.43755588_43755589dup NCBI36
NG_008866.1:g.144409_144410dup , LRG_766:g.144409_144410dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.935-69_935-68dup
ENST00000688602.1:c.2332-69_2332-68dup
ENST00000689936.1:c.2304-69_2304-68dup
ENST00000359596.8:c.13999-69_13999-68dup MANE Select ENSP00000352608.2:n.13999-69_13999-68dup
ENST00000355481.8:c.13984-69_13984-68dup ENSP00000347667.3:n.13984-69_13984-68dup
ENST00000359596.7:c.13999-69_13999-68dup ENSP00000352608.2:n.13999-69_13999-68dup
ENST00000360985.7:c.13981-69_13981-68dup ENSP00000354254.4:n.13981-69_13981-68dup
NM_000540.2:c.13999-69_13999-68dup , LRG_766t1:c.13999-69_13999-68dup NP_000531.2:n.13999-69_13999-68dup
NM_001042723.1:c.13984-69_13984-68dup NP_001036188.1:n.13984-69_13984-68dup
XM_006723317.1:c.13981-69_13981-68dup XP_006723380.1:n.13981-69_13981-68dup
XM_006723319.1:c.13966-69_13966-68dup XP_006723382.1:n.13966-69_13966-68dup
XM_011527204.1:c.13996-69_13996-68dup XP_011525506.1:n.13996-69_13996-68dup
XM_011527205.1:c.13912-69_13912-68dup XP_011525507.1:n.13912-69_13912-68dup
XM_006723317.2:c.13981-69_13981-68dup XP_006723380.1:n.13981-69_13981-68dup
XM_006723319.2:c.13966-69_13966-68dup XP_006723382.1:n.13966-69_13966-68dup
XM_011527205.2:c.13912-69_13912-68dup XP_011525507.1:n.13912-69_13912-68dup
NM_000540.3:c.13999-69_13999-68dup MANE Select NP_000531.2:n.13999-69_13999-68dup
NM_001042723.2:c.13984-69_13984-68dup NP_001036188.1:n.13984-69_13984-68dup
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