Canonical Allele Identifier: CA882064304
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1228229143
MyVariant Identifiers: chr19:g.39068948_39068949insG (hg19) chr19:g.38578308_38578309insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578309dup , CM000681.2:g.38578309dup GRCh38
NC_000019.9:g.39068949dup , CM000681.1:g.39068949dup GRCh37
NC_000019.8:g.43760789dup NCBI36
NG_008866.1:g.149610dup , LRG_766:g.149610dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1300+105dup
ENST00000688602.1:c.2697+105dup
ENST00000689936.1:c.2669+105dup
ENST00000359596.8:c.14364+105dup MANE Select ENSP00000352608.2:n.14364+105dup
ENST00000355481.8:c.14349+105dup ENSP00000347667.3:n.14349+105dup
ENST00000359596.7:c.14364+105dup ENSP00000352608.2:n.14364+105dup
ENST00000360985.7:c.14346+105dup ENSP00000354254.4:n.14346+105dup
NM_000540.2:c.14364+105dup , LRG_766t1:c.14364+105dup NP_000531.2:n.14364+105dup
NM_001042723.1:c.14349+105dup NP_001036188.1:n.14349+105dup
XM_006723317.1:c.14346+105dup XP_006723380.1:n.14346+105dup
XM_006723319.1:c.14331+105dup XP_006723382.1:n.14331+105dup
XM_011527204.1:c.14361+105dup XP_011525506.1:n.14361+105dup
XM_011527205.1:c.14277+105dup XP_011525507.1:n.14277+105dup
XM_006723317.2:c.14346+105dup XP_006723380.1:n.14346+105dup
XM_006723319.2:c.14331+105dup XP_006723382.1:n.14331+105dup
XM_011527205.2:c.14277+105dup XP_011525507.1:n.14277+105dup
NM_000540.3:c.14364+105dup MANE Select NP_000531.2:n.14364+105dup
NM_001042723.2:c.14349+105dup NP_001036188.1:n.14349+105dup
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