Canonical Allele Identifier: CA2335096110
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38587338G= , CM000681.2:g.38587338G= GRCh38
NC_000019.9:g.39077978G= , CM000681.1:g.39077978G= GRCh37
NC_000019.8:g.43769818G= NCBI36
NG_008866.1:g.158639G= , LRG_766:g.158639G=

Transcript Alleles

HGVS Amino-acid change
ENST00000593677.2:c.1957+762G=
ENST00000688602.1:c.3368G=
ENST00000689936.1:c.3340G=
ENST00000692547.1:n.428G=
ENST00000359596.8:c.15035G= MANE Select ENSP00000352608.2:p.Trp5012=
ENST00000355481.8:c.15020G= ENSP00000347667.3:p.Trp5007=
ENST00000359596.7:c.15035G= ENSP00000352608.2:p.Trp5012=
ENST00000360985.7:c.15017G= ENSP00000354254.4:p.Trp5006=
NM_000540.2:c.15035G= , LRG_766t1:c.15035G= NP_000531.2:p.Trp5012=
NM_001042723.1:c.15020G= NP_001036188.1:p.Trp5007=
XM_006723317.1:c.15017G= XP_006723380.1:p.Trp5006=
XM_006723319.1:c.15002G= XP_006723382.1:p.Trp5001=
XM_011527204.1:c.15032G= XP_011525506.1:p.Trp5011=
XM_011527205.1:c.14948G= XP_011525507.1:p.Trp4983=
XM_006723317.2:c.15017G= XP_006723380.1:p.Trp5006=
XM_006723319.2:c.15002G= XP_006723382.1:p.Trp5001=
XM_011527205.2:c.14948G= XP_011525507.1:p.Trp4983=
NM_000540.3:c.15035G= MANE Select NP_000531.2:p.Trp5012=
NM_001042723.2:c.15020G= NP_001036188.1:p.Trp5007=