Canonical Allele Identifier: CA2335031220
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38455308T= , CM000681.2:g.38455308T= GRCh38
NC_000019.9:g.38945948T= , CM000681.1:g.38945948T= GRCh37
NC_000019.8:g.43637788T= NCBI36
NG_008866.1:g.26609T= , LRG_766:g.26609T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.1514T= ENSP00000471601.2:p.Phe505=
ENST00000359596.8:c.1514T= MANE Select ENSP00000352608.2:p.Phe505=
ENST00000355481.8:c.1514T= ENSP00000347667.3:p.Phe505=
ENST00000359596.7:c.1514T= ENSP00000352608.2:p.Phe505=
ENST00000360985.7:c.1514T= ENSP00000354254.4:p.Phe505=
NM_000540.2:c.1514T= , LRG_766t1:c.1514T= NP_000531.2:p.Phe505=
NM_001042723.1:c.1514T= NP_001036188.1:p.Phe505=
XM_006723317.1:c.1514T= XP_006723380.1:p.Phe505=
XM_006723319.1:c.1514T= XP_006723382.1:p.Phe505=
XM_011527204.1:c.1511T= XP_011525506.1:p.Phe504=
XM_011527205.1:c.1514T= XP_011525507.1:p.Phe505=
XM_006723317.2:c.1514T= XP_006723380.1:p.Phe505=
XM_006723319.2:c.1514T= XP_006723382.1:p.Phe505=
XM_011527205.2:c.1514T= XP_011525507.1:p.Phe505=
XR_001753735.1:n.1597T=
NM_000540.3:c.1514T= MANE Select NP_000531.2:p.Phe505=
NM_001042723.2:c.1514T= NP_001036188.1:p.Phe505=
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