Canonical Allele Identifier: CA2335089006
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38573269C= , CM000681.2:g.38573269C= GRCh38
NC_000019.9:g.39063909C= , CM000681.1:g.39063909C= GRCh37
NC_000019.8:g.43755749C= NCBI36
NG_008866.1:g.144570C= , LRG_766:g.144570C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1027C=
ENST00000688602.1:c.2424C=
ENST00000689936.1:c.2396C=
ENST00000359596.8:c.14091C= MANE Select ENSP00000352608.2:p.Asp4697=
ENST00000355481.8:c.14076C= ENSP00000347667.3:p.Asp4692=
ENST00000359596.7:c.14091C= ENSP00000352608.2:p.Asp4697=
ENST00000360985.7:c.14073C= ENSP00000354254.4:p.Asp4691=
NM_000540.2:c.14091C= , LRG_766t1:c.14091C= NP_000531.2:p.Asp4697=
NM_001042723.1:c.14076C= NP_001036188.1:p.Asp4692=
XM_006723317.1:c.14073C= XP_006723380.1:p.Asp4691=
XM_006723319.1:c.14058C= XP_006723382.1:p.Asp4686=
XM_011527204.1:c.14088C= XP_011525506.1:p.Asp4696=
XM_011527205.1:c.14004C= XP_011525507.1:p.Asp4668=
XM_006723317.2:c.14073C= XP_006723380.1:p.Asp4691=
XM_006723319.2:c.14058C= XP_006723382.1:p.Asp4686=
XM_011527205.2:c.14004C= XP_011525507.1:p.Asp4668=
NM_000540.3:c.14091C= MANE Select NP_000531.2:p.Asp4697=
NM_001042723.2:c.14076C= NP_001036188.1:p.Asp4692=
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