Canonical Allele Identifier: CA405685208
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.39068814C>G (hg19) chr19:g.38578174C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578174C>G , CM000681.2:g.38578174C>G GRCh38
NC_000019.9:g.39068814C>G , CM000681.1:g.39068814C>G GRCh37
NC_000019.8:g.43760654C>G NCBI36
NG_008866.1:g.149475C>G , LRG_766:g.149475C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1270C>G
ENST00000688602.1:c.2667C>G
ENST00000689936.1:c.2639C>G
ENST00000359596.8:c.14334C>G MANE Select ENSP00000352608.2:p.Ile4778Met
ENST00000355481.8:c.14319C>G ENSP00000347667.3:p.Ile4773Met
ENST00000359596.7:c.14334C>G ENSP00000352608.2:p.Ile4778Met
ENST00000360985.7:c.14316C>G ENSP00000354254.4:p.Ile4772Met
NM_000540.2:c.14334C>G , LRG_766t1:c.14334C>G NP_000531.2:p.Ile4778Met
NM_001042723.1:c.14319C>G NP_001036188.1:p.Ile4773Met
XM_006723317.1:c.14316C>G XP_006723380.1:p.Ile4772Met
XM_006723319.1:c.14301C>G XP_006723382.1:p.Ile4767Met
XM_011527204.1:c.14331C>G XP_011525506.1:p.Ile4777Met
XM_011527205.1:c.14247C>G XP_011525507.1:p.Ile4749Met
XM_006723317.2:c.14316C>G XP_006723380.1:p.Ile4772Met
XM_006723319.2:c.14301C>G XP_006723382.1:p.Ile4767Met
XM_011527205.2:c.14247C>G XP_011525507.1:p.Ile4749Met
NM_000540.3:c.14334C>G MANE Select NP_000531.2:p.Ile4778Met
NM_001042723.2:c.14319C>G NP_001036188.1:p.Ile4773Met
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