Canonical Allele Identifier: CA405684523
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.39068620C>G (hg19) chr19:g.38577980C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577980C>G , CM000681.2:g.38577980C>G GRCh38
NC_000019.9:g.39068620C>G , CM000681.1:g.39068620C>G GRCh37
NC_000019.8:g.43760460C>G NCBI36
NG_008866.1:g.149281C>G , LRG_766:g.149281C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1171C>G
ENST00000688602.1:c.2568C>G
ENST00000689936.1:c.2540C>G
ENST00000359596.8:c.14235C>G MANE Select ENSP00000352608.2:p.Asp4745Glu
ENST00000355481.8:c.14220C>G ENSP00000347667.3:p.Asp4740Glu
ENST00000359596.7:c.14235C>G ENSP00000352608.2:p.Asp4745Glu
ENST00000360985.7:c.14217C>G ENSP00000354254.4:p.Asp4739Glu
NM_000540.2:c.14235C>G , LRG_766t1:c.14235C>G NP_000531.2:p.Asp4745Glu
NM_001042723.1:c.14220C>G NP_001036188.1:p.Asp4740Glu
XM_006723317.1:c.14217C>G XP_006723380.1:p.Asp4739Glu
XM_006723319.1:c.14202C>G XP_006723382.1:p.Asp4734Glu
XM_011527204.1:c.14232C>G XP_011525506.1:p.Asp4744Glu
XM_011527205.1:c.14148C>G XP_011525507.1:p.Asp4716Glu
XM_006723317.2:c.14217C>G XP_006723380.1:p.Asp4739Glu
XM_006723319.2:c.14202C>G XP_006723382.1:p.Asp4734Glu
XM_011527205.2:c.14148C>G XP_011525507.1:p.Asp4716Glu
NM_000540.3:c.14235C>G MANE Select NP_000531.2:p.Asp4745Glu
NM_001042723.2:c.14220C>G NP_001036188.1:p.Asp4740Glu
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