Canonical Allele Identifier: CA081071
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38573187del , CM000681.2:g.38573187del GRCh38
NC_000019.9:g.39063827del , CM000681.1:g.39063827del GRCh37
NC_000019.8:g.43755667del NCBI36
NG_008866.1:g.144488del , LRG_766:g.144488del

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.945del
ENST00000688602.1:c.2342del
ENST00000689936.1:c.2314del
ENST00000359596.8:c.14009del MANE Select ENSP00000352608.2:p.Val4670GlufsTer29
ENST00000355481.8:c.13994del ENSP00000347667.3:p.Val4665GlufsTer29
ENST00000359596.7:c.14009del ENSP00000352608.2:p.Val4670GlufsTer29
ENST00000360985.7:c.13991del ENSP00000354254.4:p.Val4664GlufsTer29
NM_000540.2:c.14009del , LRG_766t1:c.14009del NP_000531.2:p.Val4670GlufsTer29
NM_001042723.1:c.13994del NP_001036188.1:p.Val4665GlufsTer29
XM_006723317.1:c.13991del XP_006723380.1:p.Val4664GlufsTer29
XM_006723319.1:c.13976del XP_006723382.1:p.Val4659GlufsTer29
XM_011527204.1:c.14006del XP_011525506.1:p.Val4669GlufsTer29
XM_011527205.1:c.13922del XP_011525507.1:p.Val4641GlufsTer29
XM_006723317.2:c.13991del XP_006723380.1:p.Val4664GlufsTer29
XM_006723319.2:c.13976del XP_006723382.1:p.Val4659GlufsTer29
XM_011527205.2:c.13922del XP_011525507.1:p.Val4641GlufsTer29
NM_000540.3:c.14009del MANE Select NP_000531.2:p.Val4670GlufsTer29
NM_001042723.2:c.13994del NP_001036188.1:p.Val4665GlufsTer29
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