Canonical Allele Identifier: CA2335094950
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38584991G= , CM000681.2:g.38584991G= GRCh38
NC_000019.9:g.39075631G= , CM000681.1:g.39075631G= GRCh37
NC_000019.8:g.43767471G= NCBI36
NG_008866.1:g.156292G= , LRG_766:g.156292G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1631G=
ENST00000688602.1:c.3028G=
ENST00000689936.1:c.3000G=
ENST00000692547.1:n.88G=
ENST00000359596.8:c.14695G= MANE Select ENSP00000352608.2:p.Gly4899=
ENST00000355481.8:c.14680G= ENSP00000347667.3:p.Gly4894=
ENST00000359596.7:c.14695G= ENSP00000352608.2:p.Gly4899=
ENST00000360985.7:c.14677G= ENSP00000354254.4:p.Gly4893=
NM_000540.2:c.14695G= , LRG_766t1:c.14695G= NP_000531.2:p.Gly4899=
NM_001042723.1:c.14680G= NP_001036188.1:p.Gly4894=
XM_006723317.1:c.14677G= XP_006723380.1:p.Gly4893=
XM_006723319.1:c.14662G= XP_006723382.1:p.Gly4888=
XM_011527204.1:c.14692G= XP_011525506.1:p.Gly4898=
XM_011527205.1:c.14608G= XP_011525507.1:p.Gly4870=
XM_006723317.2:c.14677G= XP_006723380.1:p.Gly4893=
XM_006723319.2:c.14662G= XP_006723382.1:p.Gly4888=
XM_011527205.2:c.14608G= XP_011525507.1:p.Gly4870=
NM_000540.3:c.14695G= MANE Select NP_000531.2:p.Gly4899=
NM_001042723.2:c.14680G= NP_001036188.1:p.Gly4894=