Canonical Allele Identifier: CA2335088998
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38573248G= , CM000681.2:g.38573248G= GRCh38
NC_000019.9:g.39063888G= , CM000681.1:g.39063888G= GRCh37
NC_000019.8:g.43755728G= NCBI36
NG_008866.1:g.144549G= , LRG_766:g.144549G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1006G=
ENST00000688602.1:c.2403G=
ENST00000689936.1:c.2375G=
ENST00000359596.8:c.14070G= MANE Select ENSP00000352608.2:p.Thr4690=
ENST00000355481.8:c.14055G= ENSP00000347667.3:p.Thr4685=
ENST00000359596.7:c.14070G= ENSP00000352608.2:p.Thr4690=
ENST00000360985.7:c.14052G= ENSP00000354254.4:p.Thr4684=
NM_000540.2:c.14070G= , LRG_766t1:c.14070G= NP_000531.2:p.Thr4690=
NM_001042723.1:c.14055G= NP_001036188.1:p.Thr4685=
XM_006723317.1:c.14052G= XP_006723380.1:p.Thr4684=
XM_006723319.1:c.14037G= XP_006723382.1:p.Thr4679=
XM_011527204.1:c.14067G= XP_011525506.1:p.Thr4689=
XM_011527205.1:c.13983G= XP_011525507.1:p.Thr4661=
XM_006723317.2:c.14052G= XP_006723380.1:p.Thr4684=
XM_006723319.2:c.14037G= XP_006723382.1:p.Thr4679=
XM_011527205.2:c.13983G= XP_011525507.1:p.Thr4661=
NM_000540.3:c.14070G= MANE Select NP_000531.2:p.Thr4690=
NM_001042723.2:c.14055G= NP_001036188.1:p.Thr4685=
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