Canonical Allele Identifier: CA069858
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs763020461
ExAC: 19:38993100 G / GC
gnomAD v2: 19-38993100-G-GC
gnomAD v3: 19-38502460-G-GC
gnomAD v4: 19-38502460-G-GC
MyVariant Identifiers: chr19:g.38993100_38993101insC (hg19) chr19:g.38502460_38502461insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502464dup , CM000681.2:g.38502464dup GRCh38
NC_000019.9:g.38993104dup , CM000681.1:g.38993104dup GRCh37
NC_000019.8:g.43684944dup NCBI36
NG_008866.1:g.73765dup , LRG_766:g.73765dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7615-43dup ENSP00000471601.2:n.7615-43dup
ENST00000359596.8:c.7615-43dup MANE Select ENSP00000352608.2:n.7615-43dup
ENST00000355481.8:c.7615-43dup ENSP00000347667.3:n.7615-43dup
ENST00000359596.7:c.7615-43dup ENSP00000352608.2:n.7615-43dup
ENST00000360985.7:c.7612-43dup ENSP00000354254.4:n.7612-43dup
ENST00000594335.5:c.1067-43dup
NM_000540.2:c.7615-43dup , LRG_766t1:c.7615-43dup NP_000531.2:n.7615-43dup
NM_001042723.1:c.7615-43dup NP_001036188.1:n.7615-43dup
XM_006723317.1:c.7615-43dup XP_006723380.1:n.7615-43dup
XM_006723319.1:c.7615-43dup XP_006723382.1:n.7615-43dup
XM_011527204.1:c.7612-43dup XP_011525506.1:n.7612-43dup
XM_011527205.1:c.7615-43dup XP_011525507.1:n.7615-43dup
XM_006723317.2:c.7615-43dup XP_006723380.1:n.7615-43dup
XM_006723319.2:c.7615-43dup XP_006723382.1:n.7615-43dup
XM_011527205.2:c.7615-43dup XP_011525507.1:n.7615-43dup
XR_001753735.1:n.7698-43dup
NM_000540.3:c.7615-43dup MANE Select NP_000531.2:n.7615-43dup
NM_001042723.2:c.7615-43dup NP_001036188.1:n.7615-43dup
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