Canonical Allele Identifier: CA882042338
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 870617
ClinVar RCV Id: RCV001796365
dbSNP Id: rs1475149579
MyVariant Identifiers: chr19:g.38946274_38946275insA (hg19) chr19:g.38455634_38455635insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38455635dup , CM000681.2:g.38455635dup GRCh38
NC_000019.9:g.38946275dup , CM000681.1:g.38946275dup GRCh37
NC_000019.8:g.43638115dup NCBI36
NG_008866.1:g.26936dup , LRG_766:g.26936dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.1675dup ENSP00000471601.2:p.Ile559AsnfsTer11
ENST00000359596.8:c.1675dup MANE Select ENSP00000352608.2:p.Ile559AsnfsTer11
ENST00000355481.8:c.1675dup ENSP00000347667.3:p.Ile559AsnfsTer11
ENST00000359596.7:c.1675dup ENSP00000352608.2:p.Ile559AsnfsTer11
ENST00000360985.7:c.1675dup ENSP00000354254.4:p.Ile559AsnfsTer11
NM_000540.2:c.1675dup , LRG_766t1:c.1675dup NP_000531.2:p.Ile559AsnfsTer11
NM_001042723.1:c.1675dup NP_001036188.1:p.Ile559AsnfsTer11
XM_006723317.1:c.1675dup XP_006723380.1:p.Ile559AsnfsTer11
XM_006723319.1:c.1675dup XP_006723382.1:p.Ile559AsnfsTer11
XM_011527204.1:c.1672dup XP_011525506.1:p.Ile558AsnfsTer11
XM_011527205.1:c.1675dup XP_011525507.1:p.Ile559AsnfsTer11
XM_006723317.2:c.1675dup XP_006723380.1:p.Ile559AsnfsTer11
XM_006723319.2:c.1675dup XP_006723382.1:p.Ile559AsnfsTer11
XM_011527205.2:c.1675dup XP_011525507.1:p.Ile559AsnfsTer11
XR_001753735.1:n.1758dup
NM_000540.3:c.1675dup MANE Select NP_000531.2:p.Ile559AsnfsTer11
NM_001042723.2:c.1675dup NP_001036188.1:p.Ile559AsnfsTer11
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