Canonical Allele Identifier: CA2584910338
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38573382-C-CA
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38573388dup , CM000681.2:g.38573388dup GRCh38
NC_000019.9:g.39064028dup , CM000681.1:g.39064028dup GRCh37
NC_000019.8:g.43755868dup NCBI36
NG_008866.1:g.144689dup , LRG_766:g.144689dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1065+81dup
ENST00000688602.1:c.2462+81dup
ENST00000689936.1:c.2434+81dup
ENST00000359596.8:c.14129+81dup MANE Select ENSP00000352608.2:n.14129+81dup
ENST00000355481.8:c.14114+81dup ENSP00000347667.3:n.14114+81dup
ENST00000359596.7:c.14129+81dup ENSP00000352608.2:n.14129+81dup
ENST00000360985.7:c.14111+81dup ENSP00000354254.4:n.14111+81dup
NM_000540.2:c.14129+81dup , LRG_766t1:c.14129+81dup NP_000531.2:n.14129+81dup
NM_001042723.1:c.14114+81dup NP_001036188.1:n.14114+81dup
XM_006723317.1:c.14111+81dup XP_006723380.1:n.14111+81dup
XM_006723319.1:c.14096+81dup XP_006723382.1:n.14096+81dup
XM_011527204.1:c.14126+81dup XP_011525506.1:n.14126+81dup
XM_011527205.1:c.14042+81dup XP_011525507.1:n.14042+81dup
XM_006723317.2:c.14111+81dup XP_006723380.1:n.14111+81dup
XM_006723319.2:c.14096+81dup XP_006723382.1:n.14096+81dup
XM_011527205.2:c.14042+81dup XP_011525507.1:n.14042+81dup
NM_000540.3:c.14129+81dup MANE Select NP_000531.2:n.14129+81dup
NM_001042723.2:c.14114+81dup NP_001036188.1:n.14114+81dup
Search 100 bp 5'
Search 100 bp 3'