Canonical Allele Identifier: CA2335046240
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38485790_38485793delinsACCT , CM000681.2:g.38485790_38485793delinsACCT GRCh38
NC_000019.9:g.38976430_38976433delinsACCT , CM000681.1:g.38976430_38976433delinsACCT GRCh37
NC_000019.8:g.43668270_43668273delinsACCT NCBI36
NG_008866.1:g.57091_57094delinsACCT , LRG_766:g.57091_57094delinsACCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.5135_5138delinsACCT ENSP00000471601.2:p.Asp1712=
ENST00000359596.8:c.5135_5138delinsACCT MANE Select ENSP00000352608.2:p.Asp1712=
ENST00000355481.8:c.5135_5138delinsACCT ENSP00000347667.3:p.Asp1712=
ENST00000359596.7:c.5135_5138delinsACCT ENSP00000352608.2:p.Asp1712=
ENST00000360985.7:c.5132_5135delinsACCT ENSP00000354254.4:p.Asp1711=
NM_000540.2:c.5135_5138delinsACCT , LRG_766t1:c.5135_5138delinsACCT NP_000531.2:p.Asp1712=
NM_001042723.1:c.5135_5138delinsACCT NP_001036188.1:p.Asp1712=
XM_006723317.1:c.5135_5138delinsACCT XP_006723380.1:p.Asp1712=
XM_006723319.1:c.5135_5138delinsACCT XP_006723382.1:p.Asp1712=
XM_011527204.1:c.5132_5135delinsACCT XP_011525506.1:p.Asp1711=
XM_011527205.1:c.5135_5138delinsACCT XP_011525507.1:p.Asp1712=
XM_006723317.2:c.5135_5138delinsACCT XP_006723380.1:p.Asp1712=
XM_006723319.2:c.5135_5138delinsACCT XP_006723382.1:p.Asp1712=
XM_011527205.2:c.5135_5138delinsACCT XP_011525507.1:p.Asp1712=
XR_001753735.1:n.5218_5221delinsACCT
NM_000540.3:c.5135_5138delinsACCT MANE Select NP_000531.2:p.Asp1712=
NM_001042723.2:c.5135_5138delinsACCT NP_001036188.1:p.Asp1712=